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Quantification of N-acetyl-L-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease
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The parent and family impact of CLN3 disease: an observational survey-based study
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Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study
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Exploring concurrent validity of the CLN2 Clinical Rating Scale: Comparison to PedsQL using cerliponase alfa clinical trial data
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Steffens P, Weiss D, Perez A, Appel M, Weber P, Weiss C, Stoltenburg C, Ehinger U, von der Hagen M, Schallner J, Claussen B, Lode I, Hahn A, Schuler R, Ruß L, Ziegler A, Denecke J, Johannsen J
EUR J PAEDIATR NEURO. 2024;51:17-23.

Impact of neonatal pain and opiate administration in animal models: A meta-analysis concerning pain threshold
Steinbauer P, Lisy T, Monje F, Chwala E, Wildner B, Schned H, Deindl P, Berger A, Giordano V, Olischar M
EARLY HUM DEV. 2024;193:106014.

Dominant-negative effect of lactase missense variants: hetero-complex assembly with the wild-type enzyme impairs intracellular trafficking and digestive function
Wanes D, Stellbrinck T, Marten L, Santer R, Naim H
GUT. 2024;73(10):e16.

Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria
Whitehall K, Rose S, Clague G, Ahring K, Bilder D, Harding C, Hermida Á, Inwood A, Longo N, Maillot F, Muntau A, Pessoa A, Rocha J, Rohr F, Sivri S, Said J, Oshinbolu S, Sibbring G
ORPHANET J RARE DIS. 2024;19(1):.

Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use
Worthmann A, Ridder J, Piel S, Evangelakos I, Musfeldt M, Voß H, O'Farrell M, Fischer A, Adak S, Sundd M, Siffeti H, Haumann F, Kloth K, Bierhals T, Heine M, Pertzborn P, Pauly M, Scholz J, Kundu S, Fuh M, Neu A, Tödter K, Hempel M, Knippschild U, Semenkovich C, Schlüter H, Heeren J, Scheja L, Kubisch C, Schlein C
NAT COMMUN. 2024;15(1):45.

DySMA - an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing
Zang J, Witt S, Johannsen J, Weiss D, Denecke J, Dumitrascu C, Nießen A, Quitmann J, Pflug C, Flügel T
J NEUROMUSCULAR DIS. 2024;11(2):473-483.

Fetal lung growth predicts the risk for early-life respiratory infections and childhood asthma
Zazara D, Giannou O, Schepanski S, Pagenkemper M, Giannou A, Pincus M, Belios I, Bonn S, Muntau A, Hecher K, Diemert A, Arck P
WORLD J PEDIATR. 2024;20(5):481-495.

IL-22 promotes liver regeneration after portal vein ligation
Zhang T, Seeger P, Simsek Y, Sabihi M, Lücke J, Zazara-Giannou D, Shiri M, Kempski J, Blankenburg T, Zhao L, Belios I, Machicote A, Mercanoglu B, Fard-Aghaie M, Notz S, Lykoudis P, Kemper M, Ghadban T, Mann O, Hackert T, Izbicki J, Renne T, Huber S, Giannou A, Li J
HELIYON. 2024;10(6):e27578.

CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients
Ammer L, Täuber K, Perez A, Dohrmann T, Denecke J, Santer R, Blümlein U, Ozga A, Pohl S, Muschol N
J CLIN MED. 2023;12(12):.

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency
Arribas-Carreira L, Dallabona C, Swanson M, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence N, Magistrati M, Spector E, Kronquist K, Christensen M, Karstensen H, Feichtinger R, Achleitner M, Lawrence Merritt J, Pérez B, Ugarte M, Grünewald S, Riela A, Julve N, Arnoux J, Haldar K, Donnini C, Santer R, Lund A, Mayr J, Rodriguez-Pombo P, Van Hove J
HUM MOL GENET. 2023;32(6):917-933.

Comparison of classical Fabry and its p.D313Y and p.A143T variants by cardiac T1 mapping, LGE and feature tracking myocardial strain
Avanesov M, Asgari A, Muschol N, Köhn A, Tahir E, Adam G, Kirchhof P, Lund G, Cavus E, Patten M
SCI REP-UK. 2023;13(1):5809.

Developmental dynamics of homoarginine, ADMA and SDMA plasma levels from birth to adolescence
Baach F, Meyer B, Oh J, Lezius S, Böger R, Schwedhelm E, Choe C, Neu A
AMINO ACIDS. 2023;55(10):1381-1388.

Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1
Barroso M, Gertzen M, Puchwein-Schwepcke A, Preisler H, Sturm A, Reiss D, Danecka M, Muntau A, Gersting S
INT J MOL SCI. 2023;24(17):.

HIV-Infektion und -Exposition bei Kindern und Jugendlichen: 25 Jahre antiretrovirale Prophylaxe und Therapie: Was ist erreicht?
Baumann U, Schulze-Sturm U, Königs C
GYNAKOLOGIE. 2023;56:47-57.

Der besondere Fall: Koma bei vermeintlicher Alkoholintoxikation.: Koma, Acidose und zerebraler Krampfanfall bei vermeintlicher Alkoholintoxikation
Böhm S, Grinstein L, Singer D, Lange M
MONATSSCHR KINDERH. 2023 [Epub ahead of print].

Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy
Braun F, Abed A, Sellung D, Rogg M, Woidy M, Eikrem O, Wanner N, Gambardella J, Laufer S, Haas F, Wong M, Dumoulin B, Rischke P, Mühlig A, Sachs W, von Cossel K, Schulz K, Muschol N, Gersting S, Muntau A, Kretz O, Hahn O, Rinschen M, Mauer M, Bork T, Grahammer F, Liang W, Eierhoff T, Römer W, Hansen A, Meyer-Schwesinger C, Iaccarino G, Tøndel C, Marti H, Najafian B, Puelles V, Schell C, Huber T
J CLIN INVEST. 2023;133(11):.

New insights into the immune functions of podocytes: the role of complement
Bruno V, Mühlig A, Oh J, Licht C
Molecular and cellular pediatrics. 2023;10(1):.

Case report: Early onset de novo FSGS in a child after kidney transplantation-a successful treatment
Carvajal Abreu K, Loos S, Fischer L, Pape L, Wiech T, Kemper M, Tönshoff B, Oh J, Schild R
FRONT PEDIATR. 2023;11:.

Blood transcriptomics mirror regulatory mechanisms during hibernation-a comparative analysis of the Djungarian hamster with other mammalian species
Cuyutupa V, Moser D, Diedrich V, Cheng Y, Billaud J, Haugg E, Singer D, Bereiter-Hahn J, Herwig A, Choukér A
PFLUG ARCH EUR J PHY. 2023;475(10):1149-1160.

Perceived stress of mothers and fathers on two NICUs before and during the SARS-CoV-2 pandemic
Deindl P, Witting A, Dür M, Berger A, Klebermass-Schrehof K, Singer D, Giordano V, Fuiko R
SCI REP-UK. 2023;13(1):.

Nirsevimab for Prevention of Hospitalizations Due to RSV in Infants
Drysdale S, Cathie K, Flamein F, Knuf M, Collins A, Hill H, Kaiser F, Cohen R, Pinquier D, Felter C, Vassilouthis N, Jin J, Bangert M, Mari K, Nteene R, Wague S, Roberts M, Tissières P, Royal S, Faust S
NEW ENGL J MED. 2023;389(26):2425-2435.

Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)
Dulz S, Schwering C, Wildner J, Spartalis C, Schuettauf F, Bartsch U, Wibbeler E, Nickel M, Spitzer M, Atiskova Y, Schulz A
BRIT J OPHTHALMOL. 2023;107(10):1478-1483.

Long-Term Antibody Response to SARS-CoV-2 in Children
Dunay G, Barroso M, Woidy M, Danecka M, Engels G, Hermann K, Neumann F, Paul K, Beime J, Escherich G, Fehse K, Grinstein L, Haniel F, Haupt L, Hecher L, Kehl T, Kemen C, Kemper M, Kobbe R, Kohl A, Klokow T, Nörz D, Olfe J, Schlenker F, Schmiesing J, Schrum J, Sibbertsen F, Stock P, Tiede S, Vettorazzi E, Zazara D, Zapf A, Lütgehetmann M, Oh J, Mir T, Muntau A, Gersting S
J CLIN IMMUNOL. 2023;43(1):46-56.

Recommendations for endotracheal tube insertion depths in children
Ebenebe C, Schriever K, Apostolidou S, Wolf M, Herrmann J, Singer D, Deindl P
EMERG MED J. 2023;40(8):583-587.

Activated Src kinases downstream of BCR-ABL and Flt3 induces proteasomal degradation of SHIP1 by phosphorylation of tyrosine 1021
Ehm P, Bettin B, Jücker M
BBA-MOL CELL RES. 2023;1870(5):.

High burden of RSV and influenza in patients presenting with suspected pneumonia in the emergency room of a German tertiary hospital in fall of 2022
Ettemeyer M, Florey M, Tanida K, Jochum J, Schulze-Sturm U, Lütgehetmann M, Baehr M, Addo M, Schmiedel S, Rohde H, Koch T
INFECTION. 2023;51(5):1569-1575.

Gelingen multiprofessionellen Handelns: Die Beteiligung medizinischer Expert:innen als fachlicher Standard im Kinderschutzverfahren
Ewert J
2023. Praxishandbuch Kinderschutz für Fachkräfte und insoweit erfahrene Fachkräfte . 2. Aufl. Köln: Reguvis, .

Kinderschutz: Sind chronisch kranke Kinder besonders gefährdet?: Notwendigkeit der Zusammenarbeit von Jugendhilfe und Medizin im Kinderschutz bei chronisch kranken Kindern und Jugendlichen
Ewert J, Schäfer S, Berthold O, Kölch M, Fegert J
Das Jugendamt. 2023;2023(6):266-271.

Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
Felzen A, van Wessel D, Gonzales E, Thompson R, Jankowska I, Shneider B, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher J, Serranti D, Arikan C, Polat E, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Calvo P, Grabhorn E, Hartleif S, van der Woerd W, Kamath B, Wang J, Li L, Durmaz Ö, Kerkar N, Jørgensen M, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Ferreira C, Guerrero F, Wang H, Sency V, Kim K, Chen H, de Carvalho E, Fabre A, Bernabeu J, Zellos A, Alonso E, Sokol R, Suchy F, Loomes K, McKiernan P, Rosenthal P, Turmelle Y, Horslen S, Schwarz K, Bezerra J, Wang K, Hansen B, Verkade H
JHEP REP. 2023;5(2):100626.

Prävention des Schütteltraumas: Evaluation der Kampagne #schüttelntötet
Finter J, Pawils S, Timmermann L, Sperhake J, Ondruschka B, Seifert D
Kinder- und Jugendmedizin. 2023;23(2):121-129.

Schindler disease type III: Clinical presentation of a patient carrying the homozygous missense variant c.973G > A (p.E325K) in the NAGA gene
Förster L, Tiede S, Rudolph C, Muschol N
MOL GENET METAB. 2023;138(2):.

HUS with mutations in CFH and STEC infection treated with eculizumab in a 4-year-old girl
Galvez C, Krall P, Rojas A, Oh J, Cano F
PEDIATR NEPHROL. 2023;38(4):1195-1203.

German newborn screening for Cystic fibrosis: Parental perspectives and suggestions for improvements
Gapp S, Garbade S, Feyh P, Brockow I, Nennstiel U, Hoffmann G, Sommerburg O, Gramer G
PEDIATR PULM. 2023;58(3):844-852.

∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid
Gardin A, Ruiz M, Beime J, Cananzi M, Rathert M, Rohmer B, Grabhorn E, Almes M, Logarajah V, Peña-Quintana L, Casswall T, Darmellah-Remil A, Reyes-Domínguez A, Barkaoui E, Hierro L, Baquero-Montoya C, Baumann U, Fischler B, Gonzales E, Davit-Spraul A, Laplanche S, Jacquemin E
ORPHANET J RARE DIS. 2023;18(1):383.

Akute MOG-Antikörper positive Encephalomyelitis bei einer 17 Jahre alten Patientin
Gärtner J, Johannsen J, Denecke J
Neuropäd Klin Prax. 2023;22(3):112-115.

Wärmehaushalt und Temperaturregulation
Gekle M, Singer D
2023. Physiologie. Pape H, A, Silbernagl S (Hrsg.). 10. Aufl. Stuttgart: Georg Thieme Verlag KG, 604-622.

Protocol for orthotopic single-lung transplantation in mice as a tool for lung metastasis studies
Giannou A, Ohm B, Zazara D, Lücke J, Zhang T, Sabihi M, Seeger P, Oh J, Grotelüschen R, Busch P, Mann O, Hackert T, Izbicki J, Yamada Y, Huber S, Jungraithmayr W
STAR PROTOC. 2023;4(4):102701.

Editorial: Neurodevelopmental and behavioral outcomes following a traumatic event in infancy
Giordano V, Deindl P, Fuiko R, Kothgassner O
FRONT PSYCHOL. 2023;14:1157991.

Pain and neurodevelopmental outcomes of infants born very preterm
Giordano V, Deindl P, Gal E, Unterasinger L, Fuiko R, Steinbauer P, Weninger M, Berger A, Olischar M
DEV MED CHILD NEUROL. 2023;65(8):1043-1052.

The impact of pandemic restrictive visiting policies on infant wellbeing in a NICU
Giordano V, Fuiko R, Witting A, Unterasinger L, Steinbauer P, Bajer J, Farr A, Hoehl S, Deindl P, Olischar M, Berger A, Klebermass-Schrehof K
PEDIATR RES. 2023;94(3):1098-1103.

Outcomes of extracorporeal membrane oxygenation and cardiopulmonary bypass in children after drowning-related resuscitation
Gottschalk U, Köhne M, Holst T, Hüners I, von Stumm M, Müller G, Stark V, van Rüth V, Kozlik-Feldmann R, Singer D, Sachweh J, Biermann D
PERFUSION-UK. 2023;38(1):109-114.

Transition for adolescents with a rare disease: results of a nationwide German project
Grasemann C, Höppner J, Burgard P, Schündeln M, Matar N, Müller G, Krude H, Berner R, Lee-Kirsch M, Hauck F, Wainwright K, Baumgarten S, Atinga J, Bauer J, Manka E, Körholz J, Kiewert C, Heinen A, Kretschmer T, Kurth T, Mittnacht J, Schramm C, Klein C, Graessner H, Hiort O, Muntau A, Grüters A, Hoffmann G, Choukair D
ORPHANET J RARE DIS. 2023;18(1):93.

Impact of probe-induced abdominal compression on two-dimensional shear wave elastography measurement of split liver transplants in children
Groth M, Fischer L, Herden U, Brinkert F, Beime J, Deindl P, Adam G, Herrmann J
ROFO-FORTSCHR RONTG. 2023;195(10):905-912.

Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study
Guffon N, Konstantopoulou V, Hennermann J, Muschol N, Bruno I, Tummolo A, Ceravolo F, Zardi G, Ballabeni A, Lund A
J INHERIT METAB DIS. 2023;46(4):705-719.

A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a
Harms F, Weiss D, Lisfeld J, Alawi M, Kutsche K
NEUROGENETICS. 2023;24(3):171-180.

INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms
Hecher L, Harms F, Lisfeld J, Alawi M, Denecke J, Kutsche K
NEUROGENETICS. 2023;24(2):79-93.

Effects of multiple pro-inflammatory stimuli in utero on the ileum of extremely premature ovine fetuses
Heiter J, Kemp M, Spiller O, Singer D, Newnham J, Kallapur S, Jobe A, Kramer B
FRONT IMMUNOL. 2023;14:1150208.

Liver cirrhosis in children - the role of imaging in the diagnostic pathway
Herrmann J, Petit P, Grabhorn E, Lenz A, Jürgens J, Franchi-Abella S
PEDIATR RADIOL. 2023;53(4):714-726.

Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy
Inhestern L, Brandt M, Driemeyer J, Denecke J, Johannsen J, Bergelt C
INT J ENV RES PUB HE. 2023;20(7):5360.

Comparing SARS-CoV-2 variants among children and adolescents in Germany: relative risk of COVID-19-related hospitalization, ICU admission and mortality
Jank M, Oechsle A, Armann J, Behrends U, Berner R, Chao C, Diffloth N, Doenhardt M, Hansen G, Hufnagel M, Lander F, Liese J, Muntau A, Niehues T, von Both U, Verjans E, Weil K, von Kries R, Schroten H
INFECTION. 2023;51(5):1357-1367.

A Qualitative Evaluation of Advanced Training Programs in Glomerular Diseases: Results From a Program Directors' Survey
Jhaveri K, Schmidt I, Oh J, Damashek L, Jain K
KIDNEY INT REP. 2023;8(11):2183-2186.

High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy
Johannsen J, Weiss D, Driemeyer J, Olfe J, Stute F, Müller F, Schütt M, Trollmann R, Kölbel H, Schara-Schmidt U, Kirschner J, Pechmann A, Blaschek A, Horber V, Denecke J
FRONT PEDIATR. 2023;11:1259293.

Mild Crigler-Najjar Syndrome with Progressive Liver Disease-A Multicenter Retrospective Cohort Study
Junge N, Hentschel H, Krebs-Schmitt D, Stalke A, Pfister E, Hartleben B, Claßen M, Querfurt A, Münch V, Bufler P, Oh J, Grabhorn E
CHILDREN-BASEL. 2023;10(9):.

Sexualfunktionen, Schwangerschaft und Geburt
Kämmerer U, Garnier Y, Singer D
2023. Physiologie. Pape H, A, Silbernagl S (Hrsg.). 10. Aufl. Stuttgart: Georg Thieme Verlag KG, 674-713.

Impact of the COVID-19 pandemic on body mass index in children and adolescents after kidney transplantation
Kanzelmeyer N, Weigel F, Boeckenhauer J, Haffner D, Oh J, Schild R
PEDIATR NEPHROL. 2023;38(8):2801-2808.

Protocol biopsies in pediatric liver transplantation recipients improve graft histology and personalize immunosuppression
Karbaum E, Weidemann S, Grabhorn E, Fischer L, Herden U, Oh J, Briem-Richter A, Krebs-Schmitt D
J PEDIATR GASTR NUTR. 2023;76(5):627-633.

Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration
Khazaei S, Chen C, Andrade A, Kabir N, Azarafshar P, Morcos S, França J, Lopes M, Lund P, Danieau G, Worme S, Adnani L, Nzirorera N, Chen X, Yogarajah G, Russo C, Zeinieh M, Wong C, Bryant L, Hébert S, Tong B, Sihota T, Faury D, Puligandla E, Jawhar W, Sandy V, Cowan M, Nakada E, Jerome-Majewska L, Ellezam B, Gomes C, Denecke J, Lessel D, McDonald M, Pizoli C, Taylor K, Cocanougher B, Bhoj E, Gingras A, Garcia B, Lu C, Campos E, Kleinman C, Garzia L, Jabado N
CELL. 2023;186(6):1162-1178.e20.

Corrigendum: Molecular HLA mismatching for prediction of primary humoral alloimmunity and graft function deterioration in paediatric kidney transplantation
Kim J, Fichtner A, Copley H, Gragert L, Süsal C, Strologo L, Oh J, Pape L, Weber L, Weitz M, König J, Krupka K, Tönshoff B, Kosmoliaptsis V
FRONT IMMUNOL. 2023;14:1188527.

Two years of pegvaliase in Germany: Experiences and best practice recommendations
Krämer J, Baerwald C, Heimbold C, Kamrath C, Parhofer K, Reichert A, Rutsch F, Stolz S, Weinhold N, Muntau A
MOL GENET METAB. 2023;139(1):107564.

SOP Das bewusstlose Kind
Kurnaz P, Nagel P, Deindl P
Notfallmedizin up2date. 2023;18(03):239-244.

Reduced Humoral and Cellular Immune Response to Primary COVID-19 mRNA Vaccination in Kidney Transplanted Children Aged 5–11 Years
Lalia J, Schild R, Lütgehetmann M, Dunay G, Kallinich T, Kobbe R, Massoud M, Oh J, Pietzsch L, Schulze-Sturm U, Schuetz C, Sibbertsen F, Speth F, Thieme S, Witkowski M, Berner R, Muntau A, Gersting S, Toepfner N, Pagel J, Paul K
VIRUSES-BASEL. 2023;15(7):1553.

Etiology and Outcome of Adult and Pediatric Acute Liver Failure in Europe
Lenz D, Jørgensen M, Kelly D, Cardinale V, Geerts A, Gonçalves Costa I, Fichtner A, Garbade S, Hegen B, Hilberath J, de Kleine R, Kupčinskas L, McLin V, Niesert M, Prado Gonzalez V, Sturm E, Staufner C, Tjwa E, Willemse J, Zecher B, Larsen F, Sebode M, Ytting H
J PEDIATR GASTR NUTR. 2023;77(1):115-120.

Neonatal outcomes following early fetal growth restriction: a subgroup analysis of the EVERREST study
Lingam I, Okell J, Maksym K, Spencer R, Peebles D, Buquis G, Ambler G, Morsing E, Ley D, Singer D, Dyer J, Ginsberg Y, Weissbach T, Huertas-Ceballos A, Marlow N, David A
ARCH DIS CHILD-FETAL. 2023;108(6):599-606.

Long-term outcome after combined or sequential liver and kidney transplantation in children with infantile and juvenile primary hyperoxaluria type 1
Loos S, Kemper M, Schmaeschke K, Herden U, Fischer L, Hoppe B, Levart T, Grabhorn E, Schild R, Oh J, Brinkert F
FRONT PEDIATR. 2023;11:.

Recommendations for Peripherally Inserted Central Catheter Insertion Depths in Neonates
Luister A, Khostwal N, Deindl P, Herrmann J, Singer D, Ebenebe C
NEONATOLOGY. 2023;120(2):263-267.

Long-term Outcome of Pediatric Liver Transplant Recipients Who Have Reached Adulthood: A Single-center Experience
Lund L, Grabhorn E, Rüther D, Buchholz A, Lang M, Herden U, Fischer L, Sterneck M
TRANSPLANTATION. 2023;107(8):1756-1763.

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
Mah-Som A, Daw J, Huynh D, Wu M, Creekmore B, Burns W, Skinner S, Holla Ø, Smeland M, Planes M, Uguen K, Redon S, Bierhals T, Scholz T, Denecke J, Mensah M, Sczakiel H, Tichy H, Verheyen S, Blatterer J, Schreiner E, Thies J, Lam C, Spaeth C, Pena L, Ramsey K, Narayanan V, Seaver L, Rodriguez D, Afenjar A, Burglen L, Lee E, Chou T, Weihl C, Shinawi M
AM J HUM GENET. 2023;110(11):1959-1975.

Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
Maier E, Mütze U, Janzen N, Steuerwald U, Nennstiel U, Odenwald B, Schuhmann E, Lotz-Havla A, Weiss K, Hammersen J, Weigel C, Thimm E, Grünert S, Hennermann J, Freisinger P, Krämer J, Das A, Illsinger S, Gramer G, Fang-Hoffmann J, Garbade S, Okun J, Hoffmann G, Kölker S, Röschinger W
J INHERIT METAB DIS. 2023;46(6):1043-1062.

A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants
Malakasioti G, Iancu D, Milovanova A, Tsygin A, Horinouchi T, Nagano C, Nozu K, Kamei K, Fujinaga S, Iijima K, Sinha R, Basu B, Morello W, Montini G, Waters A, Boyer O, Yıldırım Z, Yel S, Dursun İ, McCarthy H, Vivarelli M, Prikhodina L, Besouw M, Chan E, Huang W, Kemper M, Loos S, Prestidge C, Wong W, Zlatanova G, Ehren R, Weber L, Chehade H, Hooman N, Tkaczyk M, Stańczyk M, Miligkos M, Tullus K
KIDNEY INT. 2023;103(5):962-972.

Clinical Factors and Adverse Kidney Outcomes in Children With Antineutrophil Cytoplasmic Antibody-Associated Glomerulonephritis
Marlais M, Wlodkowski T, Printza N, Kronsteiner D, Krisam R, Sauer L, Aksenova M, Ashoor I, Awan A, Bacchetta J, Balasubramanian R, Basu B, Bekassy Z, Boyer O, Chan E, Csaicsich D, Decramer S, Dorresteijn E, Drozynska-Duklas M, Eid L, Espinosa L, Ferraris V, Flögelová H, Forero-Delgadillo J, Gianviti A, Gracchi V, González M, Hansen M, Hattori M, Hong X, Hooman N, Ivanov D, Kang H, Karava V, Kazyra I, Lungu A, Marks S, Maxted A, Moczulska A, Müller R, Nastausheva T, Parolin M, Pecoraro C, Principi I, Sanchez-Kazi C, Saygili S, Schild R, Shenoy M, Sinha R, Spizzirri A, Stack M, Szczepanska M, Tsygin A, Tzeng J, Urbonas V, Zapata C, Zieg J, Schaefer F, Vivarelli M, Tullus K
AM J KIDNEY DIS. 2023;81(1):119-122.

Pilot study of an interprofessional pediatric mechanical ventilation educational initiative in two intensive care units
Mehrzai P, Höfeler T, Ebenebe C, Moll-Khosrawi P, Demirakça S, Vettorazzi E, Bergers M, Lange M, Dreger S, Maruhn H, Singer D, Deindl P
BMC MED EDUC. 2023;23(1):610.

Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion
Merkel M, Berg D, Brüggemann N, Classen J, Mainka T, Zittel S, Muntau A
J NEUROL. 2023;270(8):3675-3687.

Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening
Monostori P, Godejohann M, Janda J, Galla Z, Rácz G, Klinke G, Szatmári I, Zsidegh P, Kohlmüller D, Kölker S, Hoffmann G, Gramer G, Okun J
CLIN BIOCHEM. 2023;111:72-80.

Precision nephrology: from molecular diagnostics to an individualized therapy
Mühlig A, Oh J, Huber T
KIDNEY INT. 2023;103(3):464-466.

Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants
Müller S, Kluck R, Jagodzinski C, Brügelmann M, Hohenfellner K, Büscher A, Kemper M, Fröde K, Oh J, Billing H, Thumfart J, Weber L, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Pavičić L, Haffner D, Zivicnjak M
PEDIATR NEPHROL. 2023;38(12):3989-3999.

Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in Germany
Murko S, Aseman A, Reinhardt F, Gramer G, Okun J, Mütze U, Santer R
JIMD reports. 2023;64(1):114-120.

Neugeborenenscreening auf angeborene Störungen des Stoffwechsels, des Hormon-, des Blut-, des Immunsystems und des neuromuskulären Systems
Murko S, Gramer G, Santer R
Kinder- und Jugendarzt. 2023;54(4):234-246.

Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors
Murko S, Peschka M, Tsiakas K, Schulz-Jürgensen S, Herden U, Santer R
MOL GENET METAB REP. 2023;35:100977.

A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B
Muschol N, Koehn A, von Cossel K, Okur I, Ezgu F, Harmatz P, de Castro Lopez M, Couce M, Lin S, Batzios S, Cleary M, Solano M, Nestrasil I, Kaufman B, Shaywitz A, Maricich S, Kuca B, Kovalchin J, Zanelli E
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Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening
Mütze U, Garbade S, Gleich F, Lindner M, Freisinger P, Hennermann J, Thimm E, Gramer G, Posset R, Krämer J, Grünert S, Hoffmann G, Kölker S
J INHERIT METAB DIS. 2023;46(1):15-27.

Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium
Mütze U, Gleich F, Barić I, Baumgartner M, Burlina A, Chapman K, Chien Y, Cortès-Saladelafont E, De Laet C, Dobbelaere D, Eysken F, Gautschi M, Santer R, Häberle J, Joaquín C, Karall D, Lindner M, Lund A, Mühlhausen C, Murphy E, Roland D, Ruiz Gomez A, Skouma A, Grünert S, Wagenmakers M, Garbade S, Kölker S, Boy N
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Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment
Mütze U, Henze L, Schröter J, Gleich F, Lindner M, Grünert S, Spiekerkoetter U, Santer R, Thimm E, Ensenauer R, Weigel J, Beblo S, Arélin M, Hennermann J, Marquardt I, Freisinger P, Krämer J, Dieckmann A, Weinhold N, Schiergens K, Maier E, Hoffmann G, Garbade S, Kölker S
J INHERIT METAB DIS. 2023;46(6):1063-1077.

Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis?
Nickel M, Gissen P, Greenaway R, Cappelletti S, Hamborg C, Ragni B, Ribitzki T, Schulz A, Tondo I, Specchio N
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Management, vaccination status and COVID-19 morbidity of patients with Gaucher disease in Germany during the COVID-19 pandemic
Niederau C, Regenbogen C, Fruehauf H, Merkel M, Ziagaki A, Mengel E, Baerwald C, Muschol N, Staufner C, Lampe C, Gillessen A, Koehler J, Vom Dahl S
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Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis
Nikolaus M, Rausch P, Rostásy K, Bertolini A, Wickström R, Johannsen J, Denecke J, Breu M, Schimmel M, Diepold K, Haeusler M, Quade A, Berger A, Rosewich H, Steen C, von Au K, Dreesmann M, Finke C, Bartels F, Kaindl A, Schuelke M, Knierim E
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The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1
Park J, Nordström U, Tsiakas K, Keskin I, Elpers C, Mannil M, Heller R, Nolan M, Alburaiky S, Zetterström P, Hempel M, Schara-Schmidt U, Biskup S, Steinacker P, Otto M, Weishaupt J, Hahn A, Santer R, Marquardt T, Marklund S, Andersen P
BRAIN COMMUN. 2023;5(1):fcad017.

Emulation of the control cohort of a randomized controlled trial in pediatric kidney transplantation with Real-World Data from the CERTAIN Registry
Patry C, Sauer L, Sander A, Krupka K, Fichtner A, Brezinski J, Geissbühler Y, Aubrun E, Grinienko A, Strologo L, Haffner D, Oh J, Grenda R, Pape L, Topaloğlu R, Weber L, Bouts A, Kim J, Prytula A, König J, Shenoy M, Höcker B, Tönshoff B
PEDIATR NEPHROL. 2023;38(5):1621-1632.

Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Schwersenz I, Walter M, Baumann M, Baumgartner M, Deschauer M, Eisenkölbl A, Flotats-Bastardas M, Hahn A, Horber V, Husain R, Illsinger S, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stögmann E, Trollmann R, Vill K, Weiß C, Wiegand G, Ziegler A, Lochmüller H, Kirschner J
BRAIN. 2023;146(2):668-677.

Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter M, Steinbach M, Blaschek A, Baumann M, Baumgartner M, Becker B, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Küpper H, Johannsen J, Kamm C, Koch J, Köhler C, Kölbel H, Kolzter K, von Moers A, Naegel S, Neuwirth C, Petri S, Rödiger A, Schimmel M, Schrank B, Schreiber G, Smitka M, Stadler C, Steiner E, Stögmann E, Trollmann R, Türk M, Weiler M, Stoltenburg C, Willichowsky E, Zeller D, Ziegler A, Lochmüller H, Kirschner J
J NEUROMUSCULAR DIS. 2023;10(1):29-40.

Experience of early motherhood during the first wave of the COVID-19 pandemic in Northern Germany: a single-centre before and after comparison
Perez A, Schepanski S, Göbel A, Stuhrmann L, Singer D, Bindt C, Mudra S
J REPROD INFANT PSYC. 2023;41(4):428-444.

Hyperparathyroidism Is an Independent Risk Factor for Allograft Dysfunction in Pediatric Kidney Transplantation
Prytula A, Shroff R, Krupka K, Deschepper E, Bacchetta J, Ariceta G, Awan A, Benetti E, Büscher A, Berta L, Carraro A, Christian M, Dello Strologo L, Doerry K, Haumann S, Klaus G, Kempf C, Kranz B, Oh J, Pape L, Pohl M, Printza N, Rubik J, Schmitt C, Shenoy M, Spartà G, Staude H, Sweeney C, Weber L, Weber S, Weitz M, Haffner D, Tönshoff B
KIDNEY INT REP. 2023;8(1):81-90.

Treatment of Infants and Children With SARS-CoV-2 Monoclonal Antibodies: A European Case Series
Rau C, Auer-Hackenberg L, Deubzer H, Schwabel E, Jaros M, Diederichs A, Lehrnbecher T, Holm M, von Linstow M, Martin L, Dinges S, Rothensteiner M, Siepermann M, Strenger V, von Both U, Teig N, Brinkmann F, Leeb F, Zeitlinger M, Kobbe R, Götzinger F
PEDIATR INFECT DIS J. 2023;42(2):125-129.

Clinical practice recommendations on lipoprotein apheresis for children with homozygous familial hypercholesterolemia: an expert consensus statement from ERKNet and ESPN
Reijman M, Kusters D, Groothoff J, Arbeiter K, Dann E, de Boer L, de Ferranti S, Gallo A, Greber-Platzer S, Hartz J, Hudgins L, Ibarretxe D, Kayikcioglu M, Klingel R, Kolovou G, Oh J, Planken R, Stefanutti C, Taylan C, Wiegman A, Schmitt C
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Living in a box: Understanding acoustic parameters in the NICU environment
Reuter C, Bartha-Doering L, Czedik-Eysenberg I, Maeder M, Bertsch M, Bibl K, Deindl P, Berger A, Giordano V
FRONT PEDIATR. 2023;11:1147226.

Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria
Rocha J, Ahring K, Bausell H, Bilder D, Harding C, Inwood A, Longo N, Muntau A, Pessoa A, Rohr F, Sivri S, Hermida Á
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Disparities in treatment and outcome of kidney replacement therapy in children with comorbidities: an ESPN/ERA Registry study
Schild R, Dupont S, Harambat J, Vidal E, Balat A, Bereczki C, Bieniaś B, Brandström P, Broux F, Consolo S, Gojkovic I, Groothoff J, Hommel K, Hubmann H, Braddon F, Pankratenko T, Papachristou F, Plumb L, Podracka L, Prokurat S, Bjerre A, Cordinhã C, Tainio J, Shkurti E, Spartà G, Vondrak K, Jager K, Oh J, Bonthuis M
CLIN KIDNEY J. 2023;16(4):745-755.

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
Schnabel E, Kölker S, Gleich F, Feyh P, Hörster F, Haas D, Fang-Hoffmann J, Morath M, Gramer G, Röschinger W, Garbade S, Hoffmann G, Okun J, Mütze U
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Management of pediatric dialysis and kidney transplant patients after natural or man-made disasters
Sever L, Pehlivan G, Canpolat N, Saygılı S, Ağbaş A, Demirgan E, Oh J, Levtchenko E, Ivanov D, Shroff R
PEDIATR NEPHROL. 2023;38(2):315-325.

Back to the Womb: A Perinatal Perspective on Mammalian Hibernation
Singer D
PHYSIOL BIOCHEM ZOOL. 2023;96(2):153-165.

Perinatale Asphyxie - ein gleitendes Kontinuum
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2023. Fetale Herzfrequenz: verstehen, bewerten, dokumentieren. Gruber P, Lesta E, Schwarz C (Hrsg.). 1. Aufl. Hannover: Elwin Staude Verlag, 29-36.

Cell-based BSEP trans-inhibition: A novel, non-invasive test for diagnosis of antibody-induced BSEP deficiency
Stindt J, Dröge C, Lainka E, Kathemann S, Pfister E, Baumann U, Stalke A, Grabhorn E, Shagrani M, Mozer-Glassberg Y, Hartley J, Wammers M, Klindt C, Philippski P, Liebe R, Herebian D, Mayatepek E, Berg T, Schmidt-Choudhury A, Wiek C, Hanenberg H, Luedde T, Keitel V
JHEP REP. 2023;5(7):100690.

Arterial stiffness and blood pressure increase in pediatric kidney transplant recipients
Sugianto R, Ostendorf K, Bauer E, von der Born J, Oh J, Kemper M, Buescher R, Schmidt B, Memaran N, Melk A
PEDIATR NEPHROL. 2023;38(4):1319-1327.

IPNA-ESPN Junior Master Class-a decade of successful continuing education and training in pediatric nephrology
Teixeira A, Topaloglu R, Cochat P, Coppo R, Levtchenko E, Haffner D, Mahan J, Oh J
PEDIATR NEPHROL. 2023;38(10):3201-3205.

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1
Thalwitzer K, Driedger J, Xian J, Saffari A, Zacher P, Bölsterli B, McKeown Ruggiero S, Sullivan K, Datta A, Kellinghaus C, Althaus J, Wiemer-Kruel A, van Baalen A, Pampel A, Alber M, Braakman H, Debus O, Denecke J, Hobbiebrunken E, Breitweg I, Diehl D, Eitel H, Gburek-Augustat J, Preisel M, Schlump J, Laufs M, Mammadova D, Wurst C, Prager C, Löhr-Nilles C, Martin P, Garbade S, Platzer K, Benkel-Herrenbrueck I, Egler K, Fazeli W, Lemke J, Runkel E, Klein B, Linden T, Schröter J, Steffeck H, Thies B, von Deimling F, Illsinger S, Borggraefe I, Classen G, Wieczorek D, Ramantani G, Koelker S, Hoffmann G, Ries M, Helbig I, Syrbe S
NEUROLOGY. 2023;101(9):e879-e891.

Microbiota-derived 3-IAA influences chemotherapy efficacy in pancreatic cancer
Tintelnot J, Xu Y, Lesker T, Schönlein M, Konczalla L, Giannou A, Pelczar P, Kylies D, Puelles V, Bielecka A, Peschka M, Cortesi F, Riecken K, Jung M, Amend L, Bröring T, Trajkovic-Arsic M, Siveke J, Renné T, Zhang D, Boeck S, Strowig T, Uzunoglu F, Güngör C, Stein A, Izbicki J, Bokemeyer C, Sinn M, Kimmelman A, Huber S, Gagliani N
NATURE. 2023;615(7950):168-174.

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease
van der Ven A, Cabrera-Orefice A, Wente I, Feichtinger R, Tsiakas K, Weiss D, Bierhals T, Scholle L, Prokisch H, Kopajtich R, Santer R, Mayr J, Hempel M, Wittig I
MOL GENET METAB. 2023;140(3):107675.

Trends in the epidemiology of Clostridioides difficile infection in Germany
Vehreschild M, Schreiber S, von Müller L, Epple H, Weinke T, Manthey C, Oh J, Wahler S, Stallmach A
INFECTION. 2023;51(6):1695-1702.

Correction: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Vogel G, Mozer-Glassberg Y, Landau Y, Schlieben L, Prokisch H, Feichtinger R, Mayr J, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya F, Baker J, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das A, Darin N, Della Marina A, Distelmaier F, Eklund E, Ersoy M, Fang W, Gaignard P, Ganetzky R, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis M, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor R, Thorburn D, Teles E, Wang J, Weghuber D, Wortmannd S
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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Vogel G, Mozer-Glassberg Y, Landau Y, Schlieben L, Prokisch H, Feichtinger R, Mayr J, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya F, Baker J, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das A, Darin N, Della Marina A, Distelmaier F, Eklund E, Ersoy M, Fang W, Gaignard P, Ganetzky R, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis M, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor R, Thorburn D, Teles E, Wang J, Weghuber D, Wortmann S
GENET MED. 2023;25(6):100314.

Editorial: Future medical education in pediatrics and neonatology
Wagner M, Deindl P, Schmölzer G
FRONT PEDIATR. 2023;11:1136323.

Experience with the mTOR Inhibitor Everolimus in Pediatric Liver Graft Recipients
Wehming M, Krebs-Schmitt D, Briem-Richter A, Hegen B, Brinkert F, Fischer L, Grabhorn E
CHILDREN-BASEL. 2023;10(2):.

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy
Weinhofer I, Rommer P, Gleiss A, Ponleitner M, Zierfuss B, Waidhofer-Söllner P, Fourcade S, Grabmeier-Pfistershammer K, Reinert M, Göpfert J, Heine A, Yska H, Casasnovas C, Cantarín V, Bergner C, Mallack E, Forss-Petter S, Aubourg P, Bley A, Engelen M, Eichler F, Lund T, Pujol A, Köhler W, Kühl J, Berger J
EBIOMEDICINE. 2023;96:104781.

Interventionelle Behandlung eines Riesenaneurysma der extrakraniellen Arteria carotis interna bei einem 4-jährigen Kind: ein Fallbericht
Weiss D, Strohm T, Johannsen J, Buhk J, Denecke J
Neuropäd Klin Prax. 2023;22(2):68-71.

Multicytokine-producing CD4+ T cells characterize the livers of patients with NASH
Woestemeier A, Scognamiglio P, Zhao Y, Wagner J, Muscate F, Casar C, Siracusa F, Cortesi F, Agalioti T, Müller S, Sagebiel A, Konczalla L, Wahib R, Karstens K, Giannou A, Duprée A, Wolter S, Wong M, Mühlig A, Bielecka A, Bansal V, Zhang T, Mann O, Puelles V, Huber T, Lohse A, Izbicki J, Palm N, Bonn S, Huber S, Gagliani N
JCI INSIGHT. 2023;8(1):.

Effects of Infantile Hypophosphatasia on Human Dental Tissue
Wölfel E, von Kroge S, Matthies L, Köhne T, Petz K, Beikler T, Schmid-Herrmann C, Kahl-Nieke B, Tsiakas K, Santer R, Muschol N, Herrmann J, Busse B, Amling M, Rolvien T, Jandl N, Barvencik F
CALCIFIED TISSUE INT. 2023;112(3):308-319.

Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy
Zang J, Johannsen J, Denecke J, Weiss D, Koseki J, Nießen A, Müller F, Nienstedt J, Flügel T, Pflug C
EUR ARCH OTO-RHINO-L. 2023;280(3):1329-1338.

Peritoneal transformation shortly after kidney transplantation in pediatric patients with preceding chronic peritoneal dialysis
Zhang C, Bartosova M, Marinovic I, Schwab C, Schaefer B, Vondrak K, Ariceta G, Zaloszyc A, Ranchin B, Taylan C, Büscher R, Oh J, Mehrabi A, Schmitt C
NEPHROL DIAL TRANSPL. 2023;38(10):2170-2181.

Infant immunity against viral infections is advanced by the placenta-dependent vertical transfer of maternal antibodies
Albrecht M, Pagenkemper M, Wiessner C, Spohn M, Lütgehetmann M, Jacobsen H, Gabriel G, Zazara-Giannou D, Haertel C, Hecher K, Diemert A, Arck P
VACCINE. 2022;40(11):1563-1571.

Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors
Alves C, Sherbini O, D'Arco F, Steel D, Kurian M, Radio F, Ferrero G, Carli D, Tartaglia M, Balci T, Powell-Hamilton N, Schrier Vergano S, Reutter H, Hoefele J, Günthner R, Roeder E, Littlejohn R, Lessel D, Lüttgen S, Kentros C, Anyane-Yeboa K, Catarino C, Mercimek-Andrews S, Denecke J, Lyons M, Klopstock T, Bhoj E, Bryant L, Vanderver A
AM J NEURORADIOL. 2022;43(7):1048-1053.

Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis-A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients
Ammer L, Muschol N, Santer R, Lang A, Breyer S, Sasu P, Petzoldt M, Dohrmann T
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The Impact of a Dedicated Sedation Team on the Incidence of Complications in Pediatric Procedural Analgosedation
Apostolidou S, Kintscher M, Schön G, Ebenebe C, Bartz H, Singer D, Zöllner C, Röher K
CHILDREN-BASEL. 2022;9(7):.

Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2
Aries C, Lohmöller B, Tiede S, Täuber K, Hartmann G, Rudolph C, Muschol N
FRONT NEUROL. 2022;13:907317.

Combination of high-dose ambroxol and ERT in Gaucher disease type 2: A nearly age-appropriate neurocognitive and motor development after three years of treatment
Aries C, Lohmöller B, Tiede S, Täuber K, Rudolph C, Muschol N
MOL GENET METAB. 2022;135(2):.

Visual perception and macular integrity in non-classical CLN2 disease
Atiskova Y, Wildner J, Wibbeler E, Nickel M, Spitzer M, Schwering C, Schulz A, Dulz S
GRAEF ARCH CLIN EXP. 2022;260(11):3693-3700.

How peritoneal dialysis transforms the peritoneum and vasculature in children with chronic kidney disease-what can we learn for future treatment?
Bartosova M, Zarogiannis S, Schmitt C
Molecular and cellular pediatrics. 2022;9(1):9.

Experimental Therapeutic Approaches for the Treatment of Retinal Pathology in Neuronal Ceroid Lipofuscinoses
Bartsch U, Storch S
FRONT NEUROL. 2022;13:.

Prognosis of Children Undergoing Liver Transplantation: A 30-Year European Study
Baumann U, Karam V, Adam R, Fondevila C, Dhawan A, Sokal E, Jacquemin E, Kelly D, Grabhorn E, Pawlowska J, D'Antiga L, Jara Vega P, Debray D, Polak W, de Ville de Goyet J, Verkade H
PEDIATRICS. 2022;150(4):.

HIV-Infektion und -Exposition bei Kindern und Jugendlichen: 25 Jahre antiretrovirale Prophylaxe und Therapie: Was ist erreicht?
Baumann U, Schulze Sturm U, Königs C
MONATSSCHR KINDERH. 2022;170(11):997-1010.

PIGN encephalopathy: Characterizing the epileptology
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand M, Jezela-Stanek A, Jouk P, Keren B, Kloth K, Kluger G, Kuhn M, Lemke J, Li H, Martinez F, Maxton C, Mefford H, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec L, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold E, Stegmann A, Stumpel C, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer I, Møller R, Sadleir L
EPILEPSIA. 2022;63(4):974-991.

Mucha-Habermann disease: a pediatric case report and proposal of a risk score
Blohm M, Ebenebe C, Rau C, Escherich C, Johannsen J, Escherich G, Driemeyer J, Nagel P, Kobbe R, Lütgehetmann M, Lennartz M, Booken N, Schneider S, Singer D
INT J DERMATOL. 2022;61(4):401-409.

Markers of neutrophil activation and extracellular trap formation predict appendicitis
Boettcher M, Schacker A, Esser M, Schönfeld L, Ebenebe C, Rohde H, Mokhaberi N, Trochimiuk M, Appl B, Raluy L, Reinshagen K, Klohs S, Königs I
SURGERY. 2022;171(2):312-319.

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
Bölsterli B, Boltshauser E, Palmieri L, Spenger J, Brunner-Krainz M, Distelmaier F, Freisinger P, Geis T, Gropman A, Häberle J, Hentschel J, Jeandidier B, Karall D, Keren B, Klabunde-Cherwon A, Konstantopoulou V, Kottke R, Lasorsa F, Makowski C, Mignot C, O'Gorman Tuura R, Porcelli V, Santer R, Sen K, Steinbrücker K, Syrbe S, Wagner M, Ziegler A, Zöggeler T, Mayr J, Prokisch H, Wortmann S
NUTRIENTS. 2022;14(17):.

Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach
Burton B, Hermida Á, Bélanger-Quintana A, Bell H, Bjoraker K, Christ S, Grant M, Harding C, Huijbregts S, Longo N, McNutt M, Nguyen-Driver M, Santos Pessoa A, Rocha J, Sacharow S, Sanchez-Valle A, Sivri H, Vockley J, Walterfang M, Whittle S, Muntau A
MOL GENET METAB. 2022;137(1-2):114-126.

Expanding the clinical spectrum of COL2A1 related disorders by a MASS like phenotype
Demal T, Scholz T, Schüler H, Olfe J, Fröhlich A, Speth F, von Kodolitsch Y, Mir T, Reichenspurner H, Kubisch C, Hempel M, Rosenberger G
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Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
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Clinical and Genetic Aspects of Juvenile Onset Pompe Disease
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A link between Krüppel-like factor 4, complement activation, and kidney damage
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Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
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Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach
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The Spaced Learning Concept in Combination With Halsted and Peyton - A Randomized Controlled Study
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Author Correction: Platelet GPIbα is a mediator and potential interventional target for NASH and subsequent liver cancer
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Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive
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Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes
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Intravenous fluids: Issues warranting concern
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The Calcium-Sensing Receptor Stabilizes Podocyte Function in Proteinuric Humans and Mice
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Sanfilippo syndrome: consensus guidelines for clinical care
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Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI
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Natural History Studies in NCL and Their Expanding Role in Drug Development: Experiences From CLN2 Disease and Relevance for Clinical Trials
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Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis
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Patients With Infantile Nephropathic Cystinosis in Germany and Austria: A Retrospective Cohort Study
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Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB
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Spinal cord compression in patients with mucopolysaccharidosis
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Timing of reconstruction of the lower urinary tract in pediatric kidney transplant recipients: A CERTAIN multicenter analysis of current practice
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Specific CD4+ T Cell Responses to Ancestral SARS-CoV-2 in Children Increase With Age and Show Cross-Reactivity to Beta Variant
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Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
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Data quality of reported child immunization coverage in 194 countries between 2000 and 2019.
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„Fremdkörper“ im Röntgenbild: dislozierter thorako-amnialer Shunt
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Maternal Vitamin B12 Deficiency Detected by Newborn Screening-Evaluation of Causes and Characteristics
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Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies
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Genetic and epigenetic profiling identifies two distinct classes of spinal meningiomas
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Aion is a bistable anion-conducting channelrhodopsin that provides temporally extended and reversible neuronal silencing
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Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency
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Mandibular condyle morphology among patients with mucopolysaccharidosis: an observational study of panoramic radiographs
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Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy
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Therapeutic Management of COVID-19 in a Pediatric Patient with Neurodegenerative CLN2 Disease and ICV-Enzyme Replacement Therapy: A Case Report
Schwering C, Apostolidou S, Deindl P, Christner M, Knobloch J, Herrmann J, Kobbe R, Schulz A, Singer D, Ebenebe C
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Versorgung und Reanimation des reifen Neugeborenen nach der Geburt: Basierend auf der aktuellen Leitlinie des European Resuscitation Council 2021
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Estimation of Optimal Nasotracheal Tube Insertion Depth in Neonates Based on Fetal Biometric Measurements
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Phenotypic analysis of the pediatric immune response to SARS-CoV-2 by flow cytometry
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ScoMorphoFISH: A deep learning enabled toolbox for single-cell single-mRNA quantification and correlative (ultra-)morphometry
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J CELL MOL MED. 2022;26(12):3513-3526.

Mode of Action, Efficacy, and Safety of Radiant Warmers in Neonatology
Singer D
2022. Water-filtered Infrared A (wIRA) Irradiation. Vaupel P (Hrsg.). 1. Aufl. Cham: Springer Nature Switzerland, 167-177.

The Human Fetus and Metabolic Adaptations to Hypoxia
Singer D
2022. Hypoxic respiratory failure in the newborn. Dakshinamurti S (Hrsg.). 1. Aufl. London: CRC Press, 6-11.

Cross-sectional seroprevalence surveys of SARS-CoV-2 antibodies in children in Germany, June 2020 to May 2021
Sorg A, Bergfeld L, Jank M, Corman V, Semmler I, Goertz A, Beyerlein A, Verjans E, Wagner N, Von Bernuth H, Lander F, Weil K, Hufnagel M, Spiekerkoetter U, Chao C, Naehrlich L, Muntau A, Schulze-Sturm U, Hansen G, Wetzke M, Jung A, Niehues T, Fricke-Otto S, Von Both U, Huebner J, Behrends U, Liese J, Schwerk C, Drosten C, Von Kries R, Schroten H
NAT COMMUN. 2022;13(1):.

The consequences of neonatal pain, stress and opiate administration in animal models: an extensive meta-analysis concerning neuronal cell death, motor and behavioral outcomes
Steinbauer P, Monje F, Kothgassner O, Goreis A, Eva C, Wildner B, Schned H, Deindl P, Seki D, Berger A, Olischar M, Giordano V
NEUROSCI BIOBEHAV R. 2022;137:.

Thyroid function, thyroid antibodies and early postnatal development in neonates of mothers with thyroid disorders
Stoltefaut M, Fröschle G, Haddad M, Perez A, Blohm M, Deindl P, Singer D, Ebenebe C
EARLY HUM DEV. 2022;167:.

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
Sumathipala D, Strømme P, Fattahi Z, Lüders T, Sheng Y, Kahrizi K, Einarsen I, Sloan J, Najmabadi H, van den Heuvel L, Wevers R, Guerrero-Castillo S, Mørkrid L, Valayannopoulos V, Backe P, Venditti C, van Karnebeek C, Nilsen H, Frengen E, Misceo D
BRAIN. 2022;145(7):2602-2616.

A first-in-human clinical study of a new SP-B and SP-C enriched synthetic surfactant (CHF5633) in preterm babies with respiratory distress syndrome: two-year outcomes
Sweet D, Turner M, Straňák Z, Plavka R, Clarke P, Stenson B, Singer D, Goelz R, Fabbri L, Varoli G, Piccinno A, Santoro D, Del Buono D, Speer C
J MATERN-FETAL NEO M. 2022;35(24):4739-4742.

Safety of Therapeutic Apheresis in Children and Adolescents
Taylan C, Schaaf A, Dorn C, Schmitt C, Loos S, Kanzelmeyer N, Pape L, Müller D, Weber L, Thumfart J
FRONT PEDIATR. 2022;10:.

Pneumopericardium in a Preterm Infant with Marked Pulmonary Hypoplasia
Tomuschat C, Jürgens J, Deindl P
DTSCH ARZTEBL INT. 2022;119(15):.

Dolutegravir twice-daily dosing in children with HIV-associated tuberculosis: a pharmacokinetic and safety study within the open-label, multicentre, randomised, non-inferiority ODYSSEY trial
Turkova A, Waalewijn H, Chan M, Bollen P, Bwakura-Dangarembizi M, Kekitiinwa A, Cotton M, Lugemwa A, Variava E, Ahimbisibwe G, Srirompotong U, Mumbiro V, Amuge P, Zuidewind P, Ali S, Kityo C, Archary M, Ferrand R, Violari A, Gibb D, Burger D, Ford D, Colbers A
LANCET HIV. 2022;9(9):E627-E637.

Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study
Weiß C, Ziegler A, Becker L, Johannsen J, Brennenstuhl H, Schreiber G, Flotats-Bastardas M, Stoltenburg C, Hartmann H, Illsinger S, Denecke J, Pechmann A, Müller-Felber W, Vill K, Blaschek A, Smitka M, van der Stam L, Weiss K, Winter B, Goldhahn K, Plecko B, Horber V, Bernert G, Husain R, Rauscher C, Trollmann R, Garbade S, Hahn A, von der Hagen M, Kaindl A
LANCET CHILD ADOLESC. 2022;6(1):17-27.

The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample
Wibbeler E, Nickel M, Schwering C, Schulz A, Mink J
EUR J PAEDIATR NEURO. 2022;38:62-65.

Psychosoziale Versorgung für Kinder mit seltenen Erkrankungen und ihren Eltern und Geschwistern im Verbund CARE-FAM-NET
Wiegand-Grefe S, Denecke J
MONATSSCHR KINDERH. 2022;170:44 - 51.

Health-Related Quality of Life and mental health of families with children and adolescents affected by rare diseases and high disease burden: the perspective of affected children and their siblings
Wiegand-Grefe S, Liedtke A, Morgenstern L, Hoff A, Csengoe-Norris A, Johannsen J, Denecke J, Barkmann C, Grolle B, Daubmann A, Wegscheider K, Boettcher J
BMC PEDIATR. 2022;22(1):596.

An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA
Wijburg F, Aiach K, Chakrapani A, Eisengart J, Giugliani R, Héron B, Muschol N, O'Neill C, Olivier S, Parker S
MOL GENET METAB. 2022;135(2):133-142.

Teaching fiberoptic-assisted tracheoscopy in very low birth weight infants: A randomized controlled simulator study
Wolf M, Seiler B, Vogelsang V, Sydney Hopf L, Moll-Koshrawi P, Vettorazzi E, Ebenebe C, Singer D, Deindl P
FRONT PEDIATR. 2022;10:.

COVID-19 symptoms at hospital admission vary with age and sex: results from the ISARIC prospective multinational observational study

INFECTION. 2021;49(5):889-905.

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

AUTOPHAGY. 2021.

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 1

AUTOPHAGY. 2021;17(1):1-382.

The value of open-source clinical science in pandemic response: lessons from ISARIC

LANCET INFECT DIS. 2021;21(12):1623-1624.

Iatrogenic Blood Loss in Very Low Birth Weight Infants and Transfusion of Packed Red Blood Cells in a Tertiary Care Neonatal Intensive Care Unit
Aboalqez A, Deindl P, Ebenebe C, Singer D, Blohm M
CHILDREN-BASEL. 2021;8(10):.

Steering Transplant Immunosuppression by Measuring Virus-Specific T Cell Levels: The Randomized, Controlled IVIST Trial
Ahlenstiel-Grunow T, Liu X, Schild R, Oh J, Taylan C, Weber L, Staude H, Verboom M, Schröder C, Sabau R, Großhennig A, Pape L
J AM SOC NEPHROL. 2021;32(2):502-516.

Disease Manifestations in Mucopolysaccharidoses and Their Impact on Anaesthesia-Related Complications-A Retrospective Analysis of 99 Patients
Ammer L, Dohrmann T, Muschol N, Lang A, Breyer S, Ozga A, Petzoldt M
J CLIN MED. 2021;10(16):3518.

Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?
Ammer L, Pohl S, Breyer S, Aries C, Denecke J, Perez A, Petzoldt M, Schrum J, Müller I, Muschol N
MOL GENET METAB REP. 2021;26:.

Fatal COVID-19 in a Child with Persistence of SARS-CoV-2 Despite Extensive Multidisciplinary Treatment: A Case Report
Apostolidou S, Harbauer T, Lasch P, Biermann D, Hempel M, Lütgehetmann M, Pfefferle S, Herrmann J, Rüffer A, Reinshagen K, Kozlik-Feldmann R, Gieras A, Kniep I, Oh J, Singer D, Ebenebe C, Kobbe R
CHILDREN-BASEL. 2021;8(7):.

Ophthalmologische Manifestationen bei neuronalen Ceroid-Lipofuszinosen (NCL): NCL als Erkrankungen von Retina und Gehirn – Rolle der Augenärzte
Atiskova Y, Kohlschütter A, Spitzer M, Dulz S
OPHTHALMOLOGE. 2021;118(2):113-118.

Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease
Atiskova Y, Wildner J, Spitzer M, Aries C, Muschol N, Dulz S
ORPHANET J RARE DIS. 2021;16(1):.

Management of CLN1 Disease: International Clinical Consensus
Augustine E, Adams H, de Los Reyes E, Drago K, Frazier M, Guelbert N, Laine M, Levin T, Mink J, Nickel M, Peifer D, Schulz A, Simonati A, Topcu M, Turunen J, Williams R, Wirrell E, King S
PEDIATR NEUROL. 2021;120:38-51.

HEV-Associated Neuralgic Amyotrophy : A Multicentric Case Series
Bannasch J, Berger B, Schwartkopp C, Berning M, Goetze O, Panning M, Fritz-Weltin M, Trendelenburg G, Gelderblom M, Lütgehetmann M, Stute F, Horvatits T, Dirks M, Antoni C, Behrendt P, Pischke S
PATHOGENS. 2021;10(6):.

The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results
Bassanese G, Wlodkowski T, Servais A, Heidet L, Roccatello D, Emma F, Levtchenko E, Ariceta G, Bacchetta J, Capasso G, Jankauskiene A, Miglinas M, Ferraro P, Montini G, Oh J, Decramer S, Levart T, Wetzels J, Cornelissen E, Devuyst O, Zurowska A, Pape L, Buescher A, Haffner D, Marcun Varda N, Ghiggeri G, Remuzzi G, Konrad M, Longo G, Bockenhauer D, Awan A, Andersone I, Groothoff J, Schaefer F
ORPHANET J RARE DIS. 2021;16(1):251.

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown K, Bruel A, Brunet T, Carneiro M, Cremer K, Day R, Denommé-Pichon A, Dyment D, Engels H, Fisher R, Goh E, Hajianpour M, Haertel L, Hauer N, Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G, Mau-Them F, McDermott J, McWalter K, Meyer P, Õunap K, Popp B, Reimand T, Riedhammer K, Russo M, Sadleir L, Saenz M, Schiff M, Schuler E, Syrbe S, Van der Ven A, Verloes A, Willems M, Zweier C, Steindl K, Zweier M, Rauch A
GENET MED. 2021;23(3):543-554.

The natural history of Canavan disease: 23 new cases and comparison with patients from literature
Bley A, Denecke J, Kohlschütter A, Schön G, Hischke S, Guder P, Bierhals T, Lau H, Hempel M, Eichler F
ORPHANET J RARE DIS. 2021;16(1):227.

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
Brennenstuhl H, Nashawi M, Schröter J, Baronio F, Beedgen L, Gleich F, Jeltsch K, von Landenberg C, Martini S, Simon A, Thiel C, Tsiakas K, Opladen T, Kölker S, Hoffmann G, Haas D
J INHERIT METAB DIS. 2021;44(5):1272-1287.

Hip pathologies in mucopolysaccharidosis type III
Breyer S, Vettorazzi E, Schmitz L, Gulati A, von Cossel K, Spiro A, Rupprecht M, Stuecker R, Muschol N
J ORTHOP SURG RES. 2021;16(1):.

Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
Burgmaier K, Brinker L, Erger F, Beck B, Benz M, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber L, Wühl E, Zerres K, , Dötsch J, Schaefer F, Liebau M
KIDNEY INT. 2021;100(3):650-659.

Complexome Profiling-Exploring Mitochondrial Protein Complexes in Health and Disease
Cabrera-Orefice A, Potter A, Evers F, Hevler J, Guerrero-Castillo S
FRONT CELL DEV BIOL. 2021;9:796128.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha K, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini G, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A, , Kleefstra T, Stuurman K, Wilke M, Thompson M, Bebin E, Bijlsma E, Hoffer M, Peeters-Scholte C, Slavotinek A, Weiss W, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J, Yachelevich N, Lala S, Fernández-Jaen A, Pelayo J, Klöckner C, Kamphausen S, Abou Jamra R, Arelin M, Innes A, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki M, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday B, Robertson S, Lyonnet S, Amiel J, Gordon C
AM J HUM GENET. 2021;108(6):1138-1150.

Assessment of small fiber neuropathy in patients carrying the non-classical Fabry variant p.D313Y
Cossel K, Muschol N, Friedrich R, Glatzel M, Ammer L, Lohmöller B, Bendszus M, Mautner V, Godel T
MUSCLE NERVE. 2021;63(5):745-750.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Cousin M, Creighton B, Breau K, Spillmann R, Torti E, Dontu S, Tripathi S, Ajit D, Edwards R, Afriyie S, Bay J, Harper K, Beltran A, Munoz L, Falcon Rodriguez L, Stankewich M, Person R, Si Y, Normand E, Blevins A, May A, Bier L, Aggarwal V, Mancini G, van Slegtenhorst M, Cremer K, Becker J, Engels H, Aretz S, MacKenzie J, Brilstra E, van Gassen K, van Jaarsveld R, Oegema R, Parsons G, Mark P, Helbig I, McKeown S, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth H, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh J, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier R, Wang T, Eichler E, van de Laar I, McConkie-Rosell A, McDonald M, Kemppainen J, Lanpher B, Schultz-Rogers L, Gunderson L, Pichurin P, Yoon G, Zech M, Jech R, Winkelmann J, Beltran A, Zimmermann M, Temple B, Moy S, Klee E, Tan Q, Lorenzo D
NAT GENET. 2021;53(7):1006-1021.

B-Flow Sonography vs. Color Doppler Sonography for the Assessment of Vascularity in Pediatric Kidney Transplantation
Dammann E, Groth M, Schild R, Lemke A, Oh J, Adam G, Herrmann J
ROFO-FORTSCHR RONTG. 2021;193(1):49-60.

Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
Di Lorenzo G, Westermann L, Schinke T, Stürznickel J, Ludwig N, Ammer L, Baranowsky A, Ahmadi S, Pourbarkhordariesfandabadi E, Breyer S, Board T, Foster A, Mercer J, Tylee K, Velho R, Schweizer M, Renné T, Braulke T, Randon D, Sperb-Ludwig F, de Camargo Pinto L, Moreno C, Cavalcanti D, Amling M, Kutsche K, Winter D, Muschol N, Schwartz I, Rolvien T, Danyukova T, Schinke T, Pohl S
GENET MED. 2021;23(12):2369-2377.

Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
Dulz S, Atiskova Y, Engel P, Wildner J, Tsiakas K, Santer R
OPHTHALMIC GENET. 2021;42(1):23-27.

Reference ranges for sphingosine-1-phosphate in neonates
Ebenebe C, von Lucadou M, Moritz E, Schwedhelm E, Daum G, Singer D, Deindl P, Winkler M
J PERINAT MED. 2021;49(7):932-935.

Commentary on "Pediatric Idiopathic Steroid-sensitive Nephrotic Syndrome Diagnosis and Therapy - Short version of the updated German Best Practice Guideline (S2e)"
Ehren R, Benz M, Brinkkötter P, Dötsch J, Eberl W, Gellermann J, Hoyer P, Jordans I, Kamrath C, Kemper M, Latta K, Müller D, Oh J, Tönshoff B, Weber S, Weber L
PEDIATR NEPHROL. 2021;36(10):2961-2966.

Pediatric idiopathic steroid-sensitive nephrotic syndrome diagnosis and therapy -short version of the updated German best practice guideline (S2e) - AWMF register no. 166-001, 6/2020
Ehren R, Benz M, Brinkkötter P, Dötsch J, Eberl W, Gellermann J, Hoyer P, Jordans I, Kamrath C, Kemper M, Latta K, Müller D, Oh J, Tönshoff B, Weber S, Weber L
PEDIATR NEPHROL. 2021;36(10):2971-2985.

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders
El Ghaleb Y, Schneeberger P, Fernández-Quintero M, Geisler S, Pelizzari S, Polstra A, van Hagen J, Denecke J, Campiglio M, Liedl K, Stevens C, Person R, Rentas S, Marsh E, Conlin L, Tuluc P, Kutsche K, Flucher B
BRAIN. 2021;144(7):2092-2106.

An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis
Emma F, Hoff W, Hohenfellner K, Topaloglu R, Greco M, Ariceta G, Bettini C, Bockenhauer D, Veys K, Pape L, Hulton S, Collin S, Ozaltin F, Servais A, Deschênes G, Novo R, Bertholet-Thomas A, Oh J, Cornelissen E, Janssen M, Haffner D, Ravà L, Antignac C, Devuyst O, Niaudet P, Levtchenko E
KIDNEY INT. 2021;100(5):1112-1123.

Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries
Evers R, van Wegberg A, Ahring K, Beblo S, Bélanger-Quintana A, Bosch A, Burlina A, Campistol J, Coskun T, Feillet F, Giżewska M, Huijbregts S, Kearney S, Langeveld M, Leuzzi V, Maillot F, Muntau A, Rocha J, Romani C, Trefz F, MacDonald A, van Spronsen F
MOL GENET METAB. 2021;132(4):215-219.

Endurance-oriented training program with children and adolescents on maintenance hemodialysis to enhance dialysis efficacy-DiaSport
Feldkötter M, Thys S, Adams A, Becker I, Büscher R, Pohl M, Schild R, Pape L, Schmitt C, Taylan C, Wygoda S, Klaus G, Fehrenbach H, Montoya C, Konrad M, Billing H, Schaar B, Hoppe B
PEDIATR NEPHROL. 2021;36(12):3923-3932.

A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial
Finkel R, McDonald C, Lee Sweeney H, Finanger E, Neil Knierbein E, Wagner K, Mathews K, Marks W, Statland J, Nance J, McMillan H, McCullagh G, Tian C, Ryan M, O'Rourke D, Müller-Felber W, Tulinius M, Burnette W, Nguyen C, Vijayakumar K, Johannsen J, Phan H, Eagle M, MacDougall J, Mancini M, Donovan J
J NEUROMUSCULAR DIS. 2021;8(5):769-784.

T cell cytokines in the diagnostic of early-onset sepsis
Froeschle G, Bedke T, Boettcher M, Huber S, Singer D, Ebenebe C
PEDIATR RES. 2021;90(1):191-196.

Chronisch-rezidivierende Gonarthritis und Autoimmunneutropenie
Fröhlich A, Lehmberg K, Pagel J, Peldschus K, Schoof B, Schulze-Sturm U, Speth F
arthritis + rheuma. 2021;41(6):387-392.

Hypoglykämie+Septum pellucidum-Agenesie = septo-optische Dysplasie!
Fröschle G, Ebenebe C, Herrmann J, Denecke J, Singer D, Dabek M
Z GEBURTSH NEONATOL. 2021;225(5):445-446.

The plastid proteome of the nonphotosynthetic chlorophycean alga Polytomella parva
Fuentes-Ramírez E, Vázquez-Acevedo M, Cabrera-Orefice A, Guerrero-Castillo S, González-Halphen D
MICROBIOL RES. 2021;243:126649.

A pediatric gateway initiative for glomerular disease: introducing PIONEER
Gipson D, Tarnoff J, Lee L, Vivarelli M, Levtchenko E, Oh J, Smoyer W, Desmond H, Attalla S, Trachtman H
KIDNEY INT. 2021;99(3):515-518.

Investigating health-related quality of life in rare diseases:a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)
Gissen P, Specchio N, Olaye A, Jain M, Butt T, Ghosh W, Ruban-Fell B, Griffiths A, Camp C, Sisic Z, Schwering C, Wibbeler E, Trivisano M, Lee L, Nickel M, Mortensen A, Schulz A
ORPHANET J RARE DIS. 2021;16(1):.

Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I
Giugliani R, Muschol N, Keenan H, Dant M, Muenzer J
ARCH DIS CHILD. 2021;106(7):674-679.

The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery
Gonzalez Melo M, Remacle N, Cudré-Cung H, Roux C, Poms M, Cudalbu C, Barroso M, Gersting S, Feichtinger R, Mayr J, Costanzo M, Caterino M, Ruoppolo M, Rüfenacht V, Häberle J, Braissant O, Ballhausen D
MOL GENET METAB. 2021;133(2):157-181.

The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein
Grünert S, Eckenweiler M, Haas D, Lindner M, Tsiakas K, Santer R, Tucci S, Spiekerkoetter U
J INHERIT METAB DIS. 2021;44(4):893-902.

Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants
Grünert S, Schumann A, Baronio F, Tsiakas K, Murko S, Spiekerkoetter U, Santer R
GENES-BASEL. 2021;12(11):.

Multiplexed complexome profiling using tandem mass tags
Guerrero-Castillo S, Krisp C, Küchler K, Arnold S, Schlüter H, Gersting S
BBA-BIOENERGETICS. 2021;1862(9):.

Ablation of mitochondrial DNA results in widespread remodeling of the mitochondrial complexome
Guerrero-Castillo S, van Strien J, Brandt U, Arnold S
EMBO J. 2021;40(21):e108648.

Ten months of temporal variation in the clinical journey of hospitalised patients with COVID-19: An observational cohort
Hall M, Baruch J, Carson G, Citarella B, Dagens A, Dankwa E, Donnelly C, Dunning J, Escher M, Kartsonaki C, Merson L, Pritchard M, Wei J, Horby P, Rojek A, Olliaro P
ELIFE. 2021;10:.

Longitudinal development of antibody responses in covid-19 patients of different severity with elisa, peptide, and glycan arrays: An immunological case series
Heidepriem J, Dahlke C, Kobbe R, Santer R, Koch T, Fathi A, Seco B, Ly M, Schmiedel S, Schwinge D, Serna S, Sellrie K, Reichardt N, Seeberger P, Addo M, Loeffler F
PATHOGENS. 2021;10(4):.

Datenerfassungen im Kinderschutz – essenzieller Bestandteil zum besseren Verständnis der Thematik
Heimann T, Ewert J, Metzner F, Sigmund F, Jud A, Pawils S
MONATSSCHR KINDERH. 2021;169:1090-1092.

Medizinischer Kinderschutz während des Corona-Lockdowns: Vergleichende Befunde der Kinderschutzfälle aus Kliniken und Ambulanzen in Deutschland
Heimann T, Ewert J, Metzner F, Sigmund F, Jud A, Pawils S
MONATSSCHR KINDERH. 2021;169(4):346-352.

Congenital disorders of glycosylation with defective fucosylation
Hüllen A, Falkenstein K, Weigel C, Huidekoper H, Naumann-Bartsch N, Spenger J, Feichtinger R, Schaefers J, Frenz S, Kotlarz D, Momen T, Khoshnevisan R, Riedhammer K, Santer R, Herget T, Rennings A, Lefeber D, Mayr J, Thiel C, Wortmann S
J INHERIT METAB DIS. 2021;44(6):1441-1452.

No Evidence to Favor 99mTc-HMPAO or 99mTc-ECD for Ictal Brain Perfusion SPECT for Identification of the Seizure Onset Zone
Jaber M, Taherpour J, Voges B, Apostolova I, Sauvigny T, House P, Lanz M, Lindenau M, Klutmann S, Martens T, Stodieck S, Buchert R
CLIN NUCL MED. 2021;46(11):890-895.

Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen
Johannsen J, Weiss D, Daubmann A, Schmitz L, Denecke J
J CELL MOL MED. 2021;25(17):8419-8431.

Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center
Johannsen J, Weiss D, Schlenker F, Groth M, Denecke J
NEUROPEDIATRICS. 2021;52(3):179-185.

Treatment of refractory acute myeloid leukaemia during pregnancy with venetoclax, high-dose cytarabine and mitoxantrone
Karagiannis P, Alsdorf W, Tallarek A, Blohm M, Oelrich J, Waizenegger J, Wolschke C, Hecher K, Singer D, Bokemeyer C, Fiedler W
BRIT J HAEMATOL. 2021;192(2):e60-e63.

Impact of hepatopathy in pediatric patients after surgery for complex congenital heart disease
Kehl T, Biermann D, Briem-Richter A, Schoen G, Olfe J, Sachweh J, Fischer L, Schaefer H, Kozlik-Feldmann R, Gottschalk U
PLOS ONE. 2021;16(3):e0248776.

Clinical Pharmacokinetics and Pharmacodynamics of Cerliponase Alfa, Enzyme Replacement Therapy for CLN2 Disease by Intracerebroventricular Administration
Kim A, Grover A, Hammon K, de Hart G, Slasor P, Cherukuri A, Ajayi T, Jacoby D, Schulz A, Specchio N, de Los Reyes E, Gissen P, Henshaw J
CTS-CLIN TRANSL SCI. 2021;14(2):635-644.

Different approaches to long-term treatment of aHUS due to MCP mutations: a multicenter analysis
Klämbt V, Gimpel C, Bald M, Gerken C, Billing H, Loos S, Hansen M, König J, Vinke T, Montoya C, Sperandio B, Kirschstein M, Hennies I, Pohl M, Häffner K
PEDIATR NEPHROL. 2021;36(2):463-471.

More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly
Kloth K, Graul-Neumann L, Hermann K, Johannsen J, Bierhals T, Kortüm F
NEUROGENETICS. 2021;22(3):221-224.

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
Kloth K, Lozic B, Tagoe J, Hoffer M, Van der Ven A, Thiele H, Altmüller J, Kubisch C, Au P, Denecke J, Bijlsma E, Lessel D
NEUROGENETICS. 2021;22(4):263-269.

Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
Kloth K, Neu A, Rau I, Hülsemann W, Kutsche K, Volk A
EUR J MED GENET. 2021;64(3):.

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
Knapp K, Jenkins D, Sullivan R, Harms F, von Elsner L, Ockeloen C, de Munnik S, Bongers E, Murray J, Pachter N, Denecke J, Kutsche K, Bicknell L
EUR J HUM GENET. 2021;29(7):1110-1120.

Psychosocial situation, adherence, and utilization of video consultation in young adult long-term pediatric liver transplant recipients during COVID-19 pandemic
Kröncke S, Lund L, Buchholz A, Lang M, Briem-Richter A, Grabhorn E, Sterneck M
PEDIATR TRANSPLANT. 2021;25(8):e14121.

Investigation of the Proteomes of the Truffles Tuber albidum pico, T. aestivum, T. indicum, T. magnatum, and T. melanosporum
Krösser D, Dreyer B, Siebels B, Voß H, Krisp C, Schlüter H
INT J MOL SCI. 2021;22(23):.

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Kuseyri Hübschmann O, Horvath G, Cortès-Saladelafont E, Yıldız Y, Mastrangelo M, Pons R, Friedman J, Mercimek-Andrews S, Wong S, Pearson T, Zafeiriou D, Kulhánek J, Kurian M, López-Laso E, Oppebøen M, Kılavuz S, Wassenberg T, Goez H, Scholl-Bürgi S, Porta F, Honzík T, Santer R, Burlina A, Sivri H, Leuzzi V, Hoffmann G, Jeltsch K, Hübschmann D, Garbade S, García-Cazorla A, Opladen T
NAT COMMUN. 2021;12(1):5529.

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
Kuseyri Hübschmann O, Mohr A, Friedman J, Manti F, Horvath G, Cortès-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht J, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou D, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann G, Garbade S, Sivri H, Leuzzi V, Jeltsch K, García-Cazorla A, Opladen T, Harting I
J INHERIT METAB DIS. 2021;44(4):1070-1082.

The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes
Langer S, Waterstradt R, Hillebrand G, Santer R, Baltrusch S
DIABETOLOGIA. 2021;64(12):2687-2700.

The Effect of Interleukin-4 and Dexamethasone on RNA-Seq-Based Transcriptomic Profiling of Human Podocytes: A Potential Role in Minimal Change Nephrotic Syndrome
Lee J, Ko Y, Lee C, Jeon N, Lee K, Oh J, Kronbichler A, Saleem M, Lim B, Shin J
J CLIN MED. 2021;10(3):.

Current understandings in treating children with steroid-resistant nephrotic syndrome
Lee J, Kronbichler A, Shin J, Oh J
PEDIATR NEPHROL. 2021;36(4):747-761.

Distribution and management of the pediatric refugee population with renal replacement: A German pediatric cohort
Lemke J, Schild R, Konrad M, Pape L, Oh J
PEDIATR NEPHROL. 2021;36(2):271-277.

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
Li D, Strong A, Shen K, Cassiman D, Van Dyck M, Linhares N, Valadares E, Wang T, Pena S, Jaeken J, Vergano S, Zackai E, Hing A, Chow P, Ganguly A, Scholz T, Bierhals T, Deindl P, Hakonarson H, Bhoj E
GENET MED. 2021;23(4):637-644.

Improved Less Invasive Surfactant Administration Success in Preterm Infants after Procedure Standardization
Liebers B, Ebenebe C, Wolf M, Blohm M, Vettorazzi E, Singer D, Deindl P
CHILDREN-BASEL. 2021;8(12):.

A noncoding RNA modulator potentiates phenylalanine metabolism in mice
Li Y, Tan Z, Zhang Y, Zhang Z, Hu Q, Liang K, Jun Y, Ye Y, Li Y, Li C, Liao L, Xu J, Xing Z, Pan Y, Chatterjee S, Nguyen T, Hsiao H, Egranov S, Putluri N, Coarfa C, Hawke D, Gunaratne P, Tsai K, Han L, Hung M, Calin G, Namour F, Guéant J, Muntau A, Blau N, Sutton V, Schiff M, Feillet F, Zhang S, Lin C, Yang L
SCIENCE. 2021;373(6555):662-673.

Hemoconcentration and predictors in Shiga toxin-producing E. coli-hemolytic uremic syndrome (STEC-HUS)
Loos S, Oh J, Loo L, Kemper M, Blohm M, Schild R
PEDIATR NEPHROL. 2021;36(11):3777-3783.

iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations
Lotz-Havla A, Woidy M, Guder P, Friedel C, Klingbeil J, Bulau A, Schultze A, Dahmen I, Noll-Puchta H, Kemp S, Erdmann R, Zimmer R, Muntau A, Gersting S
J PROTEOME RES. 2021;20(9):4366-4380.

Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency
Lotz-Havla A, Woidy M, Guder P, Schmiesing J, Erdmann R, Waterham H, Muntau A, Gersting S
FRONT GENET. 2021;12:.

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants
Mahdieh N, Soveizi M, Tavasoli A, Rabbani A, Ashrafi M, Kohlschütter A, Rabbani B
SCI REP-UK. 2021;11(1):3231.

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Mannucci I, Dang N, Huber H, Murry J, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke P, Berland S, Bierhals T, Bilan F, Bindoff L, Braathen G, Busk Ø, Chenbhanich J, Denecke J, Escobar L, Estes C, Fleischer J, Groepper D, Haaxma C, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad U, Brenman L, Martinez-Agosto J, Might M, Miller D, Minks K, Moghaddam B, Nava C, Nelson S, Parant J, Prescott T, Rajabi F, Randrianaivo H, Reiter S, Schuurs-Hoeijmakers J, Shieh P, Slavotinek A, Smithson S, Stegmann A, Tomczak K, Tveten K, Wang J, Whitlock J, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo N, Kreienkamp H, Lessel D
GENOME MED. 2021;13(1):90.

Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study
Märtner E, Maier E, Mengler K, Thimm E, Schiergens K, Marquardt T, Santer R, Weinhold N, Marquardt I, Das A, Freisinger P, Grünert S, Vossbeck J, Steinfeld R, Baumgartner M, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer-Seifert J, Lenz D, Hoffmann G, Mühlhausen C, Ensenauer R, Garbade S, Kölker S, Boy N
J INHERIT METAB DIS. 2021;44(3):629-638.

Prediction of Nociception in Children Using the Nociceptive Flexion Reflex Threshold and the Bispectral Index-A Prospective Exploratory Observational Study
Mauritz M, Uhlenberg F, Bashir-Elahi D, Werther T, Gottschalk U, Ebenebe C, Bergers M, Giordano V, Vettorazzi E, Singer D, Deindl P
PEDIATR CRIT CARE ME. 2021;22(9):e461-e470.

Impact of Propofol Bolus Administration on the Nociceptive Flexion Reflex Threshold and Bispectral Index in Children-A Case Series
Mauritz M, Uhlenberg F, Vettorazzi E, Ebenebe C, Singer D, Deindl P
CHILDREN-BASEL. 2021;8(8):639.

A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C
Modin L, Ng V, Gissen P, Raiman J, Pfister E, Das A, Santer R, Faghfoury H, Santra S, Baumann U
CHILDREN-BASEL. 2021;8(9):.

Case Report: True Thymic Hyperplasia in a 30-Day-Old Boy
Mokhaberi N, Woessmann W, Schäfer H, Blohm M, Groth M, Reinshagen K
KLIN PADIATR. 2021;233(6):299-302.

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients
Mole S, Schulz A, Badoe E, Berkovic S, de Los Reyes E, Dulz S, Gissen P, Guelbert N, Lourenco C, Mason H, Mink J, Murphy N, Nickel M, Olaya J, Scarpa M, Scheffer I, Simonati A, Specchio N, Von Löbbecke I, Wang R, Williams R
ORPHANET J RARE DIS. 2021;16(1):.

Collapsing Focal Segmental Glomerulosclerosis in Viral Infections
Mühlig A, Gies S, Huber T, Braun F
FRONT IMMUNOL. 2021;12:.

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial
Muntau A, Burlina A, Eyskens F, Freisinger P, Leuzzi V, Sivri H, Gramer G, Pazdírková R, Cleary M, Lotz-Havla A, Lane P, Alvarez I, Rutsch F
ORPHANET J RARE DIS. 2021;16(1):341.

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
Mütze U, Henze L, Gleich F, Lindner M, Grünert S, Spiekerkoetter U, Santer R, Blessing H, Thimm E, Ensenauer R, Weigel J, Beblo S, Arélin M, Hennermann J, Marquardt T, Marquardt I, Freisinger P, Krämer J, Dieckmann A, Weinhold N, Keller M, Walter M, Schiergens K, Maier E, Hoffmann G, Garbade S, Kölker S
J INHERIT METAB DIS. 2021;44(4):857-870.

Short- and long-term results of liver transplantation according to age at transplant: a single-center experience of 351 children
Özen J, Beime J, Brinkert F, Fischer L, Herden U, Grabhorn E
TRANSPL INT. 2021;34(7):1251-1260.

Bacteriophage Rescue Therapy of a Vancomycin-Resistant Enterococcus faecium Infection in a One-Year-Old Child following a Third Liver Transplantation
Paul K, Merabishvili M, Hazan R, Christner M, Herden U, Gelman D, Khalifa L, Yerushalmy O, Coppenhagen-Glazer S, Harbauer T, Schulz-Jürgensen S, Rohde H, Fischer L, Aslam S, Rohde C, Nir-Paz R, Pirnay J, Singer D, Muntau A
VIRUSES-BASEL. 2021;13(9):1785.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
Pelletier F, Perrier S, Cayami F, Mirchi A, Saikali S, Tran L, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk R, Naidu S, Pohl D, Gibson W, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel B, Brais B, Sylvain M, Sebire G, Lourenço C, Bonkowsky J, Catsman-Berrevoets C, Pinto P, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko W, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia M, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson G, Innes A, Kauffman M, Kirwin S, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton F, Moutton S, Murphy R, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The B, Popovic V, Rating D, Rioux M, Rodriguez Espinosa N, Ronan A, Ostergaard J, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos L, Stevens C, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg B, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster R, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap M, Vanderver A, Martos-Moreno G, Polychronakos C, Wolf N, Bernard G
J CLIN ENDOCR METAB. 2021;106(2):e660-e674.

Born Under COVID-19 Pandemic Conditions: Infant Regulatory Problems and Maternal Mental Health at 7 Months Postpartum
Perez A, Göbel A, Stuhrmann L, Schepanski S, Singer D, Bindt C, Mudra S
FRONT PSYCHOL. 2021;12(12):805543.

SARS Coronavirus-2 variant tracing within the first Coronavirus Disease 19 clusters in northern Germany
Pfefferle S, Günther T, Kobbe R, Czech-Sioli M, Nörz D, Santer R, Oh J, Kluge S, Oestereich L, Peldschus K, Indenbirken D, Huang J, Grundhoff A, Aepfelbacher M, Knobloch J, Lütgehetmann M, Fischer N
CLIN MICROBIOL INFEC. 2021;27(1):130.e5-130.e8.

Prävention des Schütteltraumas
Püschel K, Seifert D, Sperhake J, Matschke J, Finter J, Pawils S, Timmermann L, Renz S, Adler I, Ondruschka B
Päd Praxis. 2021;27:417-421.

Remdesivir, Sinus Bradycardia and Therapeutic Drug Monitoring in Children With Severe COVID-19
Rau C, Apostolidou S, Singer D, Avataneo V, Kobbe R
PEDIATR INFECT DIS J. 2021;40(12):e528-e529.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Rots D, Chater-Diehl E, Dingemans A, Goodman S, Siu M, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries B, Deden A, Leenders E, Kwint M, Stumpel C, Stevens S, Vermeulen J, van Harssel J, Bosch D, van Gassen K, van Binsbergen E, de Geus C, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen I, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager L, Larsen M, Schultz-Rogers L, Morava E, Klee E, Berry I, Campbell J, Lindstrom K, Pruniski B, Neumeyer A, Radley J, Phornphutkul C, Schmidt B, Wilson W, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk M, Cohn R, Kannu P, Alkhunaizi E, Chitayat D, Scherer S, Brunner H, Vissers L, Kleefstra T, Koolen D, Weksberg R
AM J HUM GENET. 2021;108(6):1053-1068.

1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
Saffari A, Cannet C, Blaschek A, Hahn A, Hoffmann G, Johannsen J, Kirsten R, Kockaya M, Kölker S, Müller-Felber W, Roos A, Schäfer H, Schara U, Spraul M, Trefz F, Vill K, Wick W, Weiler M, Okun J, Ziegler A
ORPHANET J RARE DIS. 2021;16(1):.

Nitrogen Balance after the Administration of a Prolonged-Release Protein Substitute for Phenylketonuria as a Single Dose in Healthy Volunteers
Scheinin M, Junnila J, Reiner G, MacDonald A, Muntau A
NUTRIENTS. 2021;13(9):.

Heterogeneous Recommendations for School Attendance in Children With Chronic Kidney Diseases During the COVID-19 Pandemic in Europe
Schild R, Hopf L, Loos S, Oh J, Levtchenko E
FRONT PEDIATR. 2021;9:.

mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy
Schlingmann K, Jouret F, Shen K, Nigam A, Arjona F, Dafinger C, Houillier P, Jones D, Kleinerüschkamp F, Oh J, Godefroid N, Eltan M, Güran T, Burtey S, Parotte M, König J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis F, Renkema K, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altmüller J, Thiele H, Beck B, Dahan K, Sabatini D, Liebau M, Vargas-Poussou R, Knoers N, Konrad M, de Baaij J
J AM SOC NEPHROL. 2021;32(11):2885-2899.

Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia
Schob C, Hempel M, Brozkova D, Jiang H, Kim S, Batzir N, Orenstein N, Bierhals T, Johannsen J, Meszarosova A, Chae J, Seeman P, Woidy M, Fang F, Kubisch C, Kindler S, Denecke J
ANN NEUROL. 2021;90(5):738-750.

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
Scholz T, Blohm M, Kortüm F, Bierhals T, Lessel D, van der Ven A, Lisfeld J, Herget T, Kloth K, Singer D, Perez A, Obi N, Johannsen J, Denecke J, Santer R, Kubisch C, Deindl P, Hempel M
NEONATOLOGY. 2021;118(4):454-461.

Impact of donor-specific antibodies on long-term graft survival with pediatric liver transplantation
Schotters F, Beime J, Briem-Richter A, Binder T, Herden U, Grabhorn E
WORLD J HEPATOL. 2021;13(6):673-685.

Outcome of liver transplantation and prevalence of liver fibrosis in Crigler-Najjar syndrome
Schröder H, Junge N, Herden U, Deutschmann A, Weidemann S, Krebs-Schmitt D, Grabhorn E
CLIN TRANSPLANT. 2021;35(4):.

Mutations within FGFR1 are associated with superior outcome in a series of 83 diffuse midline gliomas with H3F3A K27M mutations
Schüller U, Iglauer P, Dorostkar M, Mawrin C, Herms J, Giese A, Glatzel M, Neumann J
ACTA NEUROPATHOL. 2021;141(2):323-325.

Development of the "Hamburg Best Practice Guidelines for ICV-Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients
Schwering C, Kammler G, Wibbeler E, Christner M, Knobloch J, Nickel M, Denecke J, Baehr M, Schulz A
J CHILD NEUROL. 2021;36(8):635-641.

Auswirkungen geburtshilflicher Analgesie mit systemischen Opioiden auf das Neugeborene – eine Übersichtsarbeit
Seiler B, Deindl P, Somville T, Ebenebe C, Hecher K, Singer D
Z GEBURTSH NEONATOL. 2021;225(6):473-483.

Erratum: Auswirkungen geburtshilflicher Analgesie mit systemischen Opioiden auf das Neugeborene – eine Übersichtsarbeit
Seiler B, Deindl P, Somville T, Ebenebe C, Hecher K, Singer D
Z GEBURTSH NEONATOL. 2021;225(6):e4.

Den Mangel überleben: Natürliche Anpassungen bei Neugeborenen
Singer D
Z GEBURTSH NEONATOL. 2021;225(3):203-215.

Die Perinatale Ethikkommission am UKE - Von der Nützlichkeit des nicht Notwendigen
Singer D
2021. Praxisfeld Klinische Ethik. Göke B, Prölß J, Osten P (Hrsg.). 1. Aufl. Berlin: Medizinisch Wissenschaftliche Verlagsgesellschaft, 95-98.

Pediatric Hypothermia: An Ambiguous Issue
Singer D
INT J ENV RES PUB HE. 2021;18(21):.

Adults Born Preterm: Long-Term Health Risks of Former Very Low Birth Weight Infants
Singer D, Thiede L, Perez A
DTSCH ARZTEBL INT. 2021;118(31-32):521-527.

Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype
Soldati C, Lopez-Fabuel I, Wanderlingh L, Garcia-Macia M, Monfregola J, Esposito A, Napolitano G, Guevara-Ferrer M, Scotto Rosato A, Krogsaeter E, Paquet D, Grimm C, Montefusco S, Braulke T, Storch S, Mole S, De Matteis M, Ballabio A, Sampaio J, McKay T, Johannes L, Bolaños J, Medina D
EMBO MOL MED. 2021;13(10):.

Long-term impact of systematic pain and sedation management on cognitive, motor, and behavioral outcomes of extremely preterm infants at preschool age
Steinbauer P, Deindl P, Fuiko R, Unterasinger L, Cardona F, Wagner M, Edobor J, Werther T, Berger A, Olischar M, Giordano V
PEDIATR RES. 2021;89(3):540-548.

Human epithelial stem cell survival within their niche requires "tonic" cannabinoid receptor 1-signalling-Lessons from the hair follicle
Sugawara K, Zákány N, Tiede S, Purba T, Harries M, Tsuruta D, Bíró T, Paus R
EXP DERMATOL. 2021;30(4):479-493.

Presence of donor specific HLA class 2 antibodies (DSA class 2) is associated with development of graft fibrosis more than 10 years after liver transplantation-a retrospective single center study
Sultani B, Marget M, Briem-Richter A, Herrmann J, Meisner S, Grabhorn E, Ozga A, Weidemann S, Herden U, Fischer L, Sterneck M
CLIN TRANSPLANT. 2021;35(7):.

Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen M, Fischer A, Grimbacher B, Edgar D, Buckland M, Mahlaoui N, Ehl S
J ALLERGY CLIN IMMUN. 2021;148(5):1332-1341.e5.

UDP-GlcNAc-1-phosphotransferase is a clinically important regulator of human and mouse hair pigmentation
Tiede S, Hundt J, Paus R
J INVEST DERMATOL. 2021.

Health economic burden of patients with phenylketonuria (PKU) - A retrospective study of German health insurance claims data
Trefz F, Muntau A, Schneider K, Altevers J, Jacob C, Braun S, Greiner W, Jha A, Jain M, Alvarez I, Lane P, Zeiss C, Rutsch F
MOL GENET METAB REP. 2021;27:100764.

Dolutegravir as First- or Second-Line Treatment for HIV-1 Infection in Children
Turkova A, White E, Mujuru H, Kekitiinwa A, Kityo C, Violari A, Lugemwa A, Cressey T, Musoke P, Variava E, Cotton M, Archary M, Puthanakit T, Behuhuma O, Kobbe R, Welch S, Bwakura-Dangarembizi M, Amuge P, Kaudha E, Barlow-Mosha L, Makumbi S, Ramsagar N, Ngampiyaskul C, Musoro G, Atwine L, Liberty A, Musiime V, Bbuye D, Ahimbisibwe G, Chalermpantmetagul S, Ali S, Sarfati T, Wynne B, Shakeshaft C, Colbers A, Klein N, Bernays S, Saïdi Y, Coelho A, Grossele T, Compagnucci A, Giaquinto C, Rojo P, Ford D, Gibb D
NEW ENGL J MED. 2021;385(27):2531-2543.

Beurteilung der Analgosedierungstiefe bei pädiatrischen Intensivpatient*innen mit Hilfe der nozizeptiven Flexionsreflex-Schwelle
Uhlenberg
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Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
van der Ven A, Johannsen J, Kortüm F, Wagner M, Tsiakas K, Bierhals T, Lessel D, Herget T, Kloth K, Lisfeld J, Scholz T, Obi N, Wortmann S, Prokisch H, Kubisch C, Denecke J, Santer R, Hempel M
CLIN GENET. 2021;100(6):766-770.

CEDAR, an online resource for the reporting and exploration of complexome profiling data
van Strien J, Haupt A, Schulte U, Braun H, Cabrera-Orefice A, Choudhary J, Evers F, Fernandez-Vizarra E, Guerrero-Castillo S, Kooij T, Páleníková P, Pardo M, Ugalde C, Wittig I, Wöhlbrand L, Brandt U, Arnold S, Huynen M
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Clinical practice recommendations for recurrence of focal and segmental glomerulosclerosis/steroid-resistant nephrotic syndrome
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Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease:A Retrospective Case Series
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A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A
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Neuronal metabotropic glutamate receptor 8 protects against neurodegeneration in CNS inflammation
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Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
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Hip Morphology in Mucolipidosis Type II
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The Link Between Hyperhomocysteinemia and Hypomethylation: Implications for Cardiovascular Disease
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Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti-N-Methyl-D-Aspartate Receptor Encephalitis
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Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
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The use of cinacalcet after pediatric renal Transplantation: an international CERTAIN Registry analysis
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Große Nabelschnurzyste bei persistierendem Urachus
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Evaluation of two family-based intervention programs for children affected by rare disease and their families – research network (CARE-FAM-NET): study protocol for a rater-blinded, randomized, controlled, multicenter trial in a 2x2 factorial design
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Successful Stem Cell Apheresis Using Spectra Optia in a 6 kg Child With Atypical Teratoid/Rhabdoid Tumor
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Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
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Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)
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Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination
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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions
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Distinct early IgA profile may determine severity of COVID-19 symptoms: an immunological case series
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From structural modalities in perinatal medicine to the frequency of preterm birth
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Forensische Pädopathologie: Verhungert an der Mutterbrust
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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
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A prospective observational trial evaluating factors predictive of accurate endotracheal tube positioning in neonates and small infants
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Infantile Hepatic Hemangioma: Avoiding Unnecessary Invasive Procedures
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Bone and Mineral Metabolism in Children with Nephropathic Cystinosis Compared with other CKD Entities
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Nierenzysten und zystische Nierenerkrankungen bei Kindern (AWMF S2k-Leitlinie)
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The Limitations of Pain Scales-Reply
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JAMA PEDIATR. 2020;174(6):623-624.

Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related GLA-Variant p.A143T
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COVID-19 in children and adolescents in Europe: a multinational, multicentre cohort study
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Diagnosis and Care of Infants and Children with Pompe Disease
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The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation
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The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis
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The Genetic Landscape and Epidemiology of Phenylketonuria
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Serum indoxyl sulfate concentrations associate with progression of chronic kidney disease in children
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Sucking patterns are not predictive of further feeding development in healthy preterm infants
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The impact of long-term ventilator-use on health-related quality of life and the mental health of children with neuromuscular diseases and their families: need for a revised perspective?
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Wie gut werden Patientinnen auf Internetseiten von deutschen universitären Brustzentren über die Möglichkeiten der Brustrekonstruktion informiert?
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Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
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Clinical Interventions and All-Cause Mortality of Patients with Chronic Kidney Disease: An Umbrella Systematic Review of Meta-Analyses
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Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2
Kloth K, Vater I, Lindschau R, Rau I, Caliebe A, Muschol N
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First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy
Kohlschütter A, Finckh B, Nickel M, Bley A, Hübner C
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Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group
Köhn A, Grigull L, du Moulin M, Kabisch S, Ammer L, Rudolph C, Muschol N
MOL GENET METAB REP. 2020;23:100578.

Treatment Landscape and Prognosis After Treatment with Trastuzumab Emtansine
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Review on long-term non-renal complications of childhood nephrotic syndrome
Lee J, Kronbichler A, Shin J, Oh J
ACTA PAEDIATR. 2020;109(3):460-470.

Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS)
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Germline AGO2 mutations impair RNA interference and human neurological development
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Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
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Practice of lipoprotein apheresis and short-term efficacy in children with homozygous familial hypercholesterolemia: Data from an international registry
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ATHEROSCLEROSIS. 2020;299:24-31.

Correction to: PKU dietary handbook to accompany PKU guidelines
MacDonald A, van Wegberg A, Ahring K, Beblo S, Bélanger-Quintana A, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts S, Leuzzi V, Maillot F, Muntau A, Rocha J, Romani C, Trefz F, van Spronsen F
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PKU dietary handbook to accompany PKU guidelines
MacDonald A, van Wegberg A, Ahring K, Beblo S, Bélanger-Quintana A, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts S, Leuzzi V, Maillot F, Muntau A, Rocha J, Romani C, Trefz F, van Spronsen F
ORPHANET J RARE DIS. 2020;15(1):171.

Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry
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J MASS SPECTROM. 2020;56(1):.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
Mak C, Doherty D, Lin A, Vegas N, Cho M, Viot G, Dimartino C, Weisfeld-Adams J, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate Y, Ehmke N, Horn D, Troyer C, Kant S, Lee Y, Ishak G, Leung G, Barone Pritchard A, Yang S, Bend E, Filippini F, Roadhouse C, Lebrun N, Mehaffey M, Martin P, Apple B, Millan F, Puk O, Hoffer M, Henderson L, McGowan R, Wentzensen I, Pei S, Zahir F, Yu M, Gibson W, Seman A, Steeves M, Murrell J, Luettgen S, Francisco E, Strom T, Amlie-Wolf L, Kaindl A, Wilson W, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers L, Radtke K, Chelly J, Zackai E, Friedman J, Bamshad M, Nickerson D, , Reid R, Devriendt K, Chae J, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan T, Orenstein N, Dobyns W, Shieh J, Choi M, Waggoner D, Gripp K, Parker M, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman T, Amiel J, Chung B, Gordon C
BRAIN. 2020;143(1):55-68.

Akute Gastroenteritis im Kindes- und Erwachsenenalter
Manthey C, Beime J, Schulz-Jürgensen S
Gastroenterologie up2date. 2020;16(4):367-385.

Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency
Marten L, Brinkert F, Smith D, Prokisch H, Hempel M, Santer R
MOL GENET METAB REP. 2020;25:100681.

Progression-Free Survival and Overall Survival in Patients with Advanced HER2-Positive Breast Cancer Treated with Trastuzumab Emtansine (T-DM1) after Previous Treatment with Pertuzumab
Michel L, Hartkopf A, Fasching P, Kolberg H, Hadji P, Tesch H, Häberle L, Ettl J, Lüftner D, Wallwiener M, Müller V, Beckmann M, Belleville E, Volz B, Huebner H, Wimberger P, Hielscher C, Mundhenke C, Kurbacher C, Wuerstlein R, Untch M, Overkamp F, Huober J, Janni W, Taran F, Lux M, Wallwiener D, Brucker S, Schneeweiss A, Fehm T
CANCERS. 2020;12(10):.

Podocytes Produce and Secrete Functional Complement C3 and Complement Factor H
Mühlig A, Keir L, Abt J, Heidelbach H, Horton R, Welsh G, Meyer-Schwesinger C, Licht C, Coward R, Fester L, Saleem M, Oh J
FRONT IMMUNOL. 2020;11:1833.

Creatine, guanidinoacetate and homoarginine in statin-induced myopathy
Neu A, Hornig S, Sasani A, Isbrandt D, Gerloff C, Tsikas D, Schwedhelm E, Choe C
AMINO ACIDS. 2020;52(6-7):1067-1069.

Tuberculosis Disease in Children and Adolescents on Therapy With Antitumor Necrosis Factor-ɑ Agents: A Collaborative, Multicenter Paediatric Tuberculosis Network European Trials Group (ptbnet) Study
Noguera-Julian A, Calzada-Hernández J, Brinkmann F, Basu Roy R, Bilogortseva O, Buettcher M, Carvalho I, Chechenyeva V, Falcón L, Goetzinger F, Guerrero-Laleona C, Hoffmann P, Jelusic M, Niehues T, Ozere I, Shackley F, Suciliene E, Welch S, Schölvinck E, Ritz N, Tebruegge M
CLIN INFECT DIS. 2020;71(10):2561-2569.

Increased Regulatory T Cells Precede the Development of Bronchopulmonary Dysplasia in Preterm Infants
Pagel J, Twisselmann N, Rausch T, Waschina S, Hartz A, Steinbeis M, Olbertz J, Nagel K, Steinmetz A, Faust K, Demmert M, Göpel W, Herting E, Rupp J, Härtel C
FRONT IMMUNOL. 2020;11:565257.

Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1
Pechmann A, Baumann M, Bernert G, Flotats-Bastardas M, Gruber-Sedlmayr U, von der Hagen M, Hasselmann O, Hobbiebrunken E, Horber V, Johannsen J, Kellersmann A, Köhler C, von Moers A, Müller-Felber W, Plecko B, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stoltenburg C, Stüve B, Theophil M, Weiß C, Wiegand G, Wilichowski E, Winter B, Wittmann W, Schara U, Kirschner J
J NEUROMUSCULAR DIS. 2020;7(1):41-46.

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome
Pennisi A, Maranda B, Benoist J, Baudouin V, Rigal O, Pichard S, Santer R, Romana Lepri F, Novelli A, Ogier de Baulny H, Dionisi-Vici C, Schiff M
J INHERIT METAB DIS. 2020;43(3):540-548.

Lost in Transition: Health Care Experiences of Adults Born Very Preterm - A Qualitative Approach
Perez A, Thiede L, Lüdecke D, Ebenebe C, von dem Knesebeck O, Singer D
FRONT PUBLIC HEALTH. 2020;8:605149.

In situ Visualization of C3/C5 Convertases to Differentiate Complement Activation
Person F, Petschull T, Wulf S, Buescheck F, Biniaminov S, Fehrle W, Oh J, Skerka C, Zipfel P, Wiech T
KIDNEY INT REP. 2020;5(6):927-930.

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration
Polovitskaya M, Barbini C, Martinelli D, Harms F, Cole F, Calligari P, Bocchinfuso G, Stella L, Ciolfi A, Niceta M, Rizza T, Shinawi M, Sisco K, Johannsen J, Denecke J, Carrozzo R, Wegner D, Kutsche K, Tartaglia M, Jentsch T
AM J HUM GENET. 2020;107(6):1062-1077.

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
Rice G, Park S, Gavazzi F, Adang L, Ayuk L, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley A, Blumkin L, Boespflug-Tanguy O, Briggs T, Brimble E, Dale R, Darin N, Debray F, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly D, Lev D, Levrat V, Livingston J, Marti I, Mignot C, Mochel F, Nougues M, Oppermann I, Pérez-Dueñas B, Popp B, Rodero M, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson C, Zerem A, Zweier C, Zuberi S, Orcesi S, Vanderver A, Hur S, Crow Y
HUM MUTAT. 2020;41(4):837-849.

Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity
Rietdorf K, Coode E, Schulz A, Wibbeler E, Bootman M, Ostergaard J
BBA-MOL BASIS DIS. 2020;1866(9):.

Muscle phenotype of AGAT- and GAMT-deficient mice after simvastatin exposure
Sasani A, Hornig S, Grzybowski R, Cordts K, Hanff E, Tsikas D, Böger R, Gerloff C, Isbrandt D, Neu A, Schwedhelm E, Choe C
AMINO ACIDS. 2020;52(1):73-85.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Schneeberger P, Kortüm F, Korenke G, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb B, Coci E, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier E, Javaher-Haghighi P, Bedeschi M, Ajmone P, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen M, Beysen D, Kooy R, Houlden H, Murphy D, Doosti M, Karimiani E, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A, , Gelb B, Kurth I, Hempel M, Kutsche K
BRAIN. 2020;143(8):2437-2453.

Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3
Seifert C, Storch S, Bähring R
J BIOL CHEM. 2020;295(34):12099-12110.

What is the right temperature for a neonate?
Singer D, van der Meer F, Perez A
2020. Innovations and frontiers in neonatology. Herting E, Kiess W (Hrsg.). Basel: Karger, 95-111.

Successful Immunochemotherapy for Burkitt Lymphoma During Pregnancy as a Bridge to Postpartum High-Dose Methotrexate Therapy: A Case Report and Review of the Literature
Stang A, Schwärzler P, Schmidtke S, Tolosa E, Kobbe R
CL LYMPH MYELOM LEUK. 2020;20(6):e284-e290.

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church J, Crushell E, Dalgıç B, Das A, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut N, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass M, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr J, McKiernan P, Mention K, Moog U, Mungan N, Riedhammer K, Santer R, Palafoll I, Vockley J, Westphal D, Wiedemann A, Wortmann S, Diwan G, Russell R, Prokisch H, Garbade S, Kölker S, Hoffmann G, Lenz D
GENET MED. 2020;22(3):610-621.

Markers of NETosis Do Not Predict Neonatal Early Onset Sepsis: A Pilot Study
Stiel C, Ebenebe C, Trochimiuk M, Pagarols Raluy L, Vincent D, Singer D, Reinshagen K, Boettcher M
FRONT PEDIATR. 2020;7:.

Sex and age as determinants for high blood pressure in pediatric renal transplant recipients: a longitudinal analysis of the CERTAIN Registry
Sugianto R, Schmidt B, Memaran N, Duzova A, Topaloglu R, Seeman T, König S, Dello Strologo L, Murer L, Özçakar Z, Bald M, Shenoy M, Buescher A, Hoyer P, Pohl M, Billing H, Oh J, Staude H, Pohl M, Genc G, Klaus G, Alparslan C, Grenda R, Rubik J, Krupka K, Tönshoff B, Wühl E, Melk A
PEDIATR NEPHROL. 2020;35(3):415-426.

Twelve-month outcome in juvenile proliferative lupus Nephritis: results of the German registry study
Suhlrie A, Hennies I, Gellermann J, Büscher A, Hoyer P, Waldegger S, Wygoda S, Beetz R, Lange-Sperandio B, Klaus G, Konrad M, Holder M, Staude H, Rascher W, Oh J, Pape L, Tönshoff B, Haffner D
PEDIATR NEPHROL. 2020;35(7):1235-1246.

Cardiovascular Outcome of Pediatric Patients With Bi-Allelic (Homozygous) Familial Hypercholesterolemia Before and After Initiation of Multimodal Lipid Lowering Therapy Including Lipoprotein Apheresis
Taylan C, Driemeyer J, Schmitt C, Pape L, Büscher R, Galiano M, König J, Schürfeld C, Spitthöver R, Versen A, Koziolek M, Marsen T, Stein H, Schaefer J, Heibges A, Klingel R, Oh J, Weber L, Klaus G
AM J CARDIOL. 2020;136:38-48.

Lithocholic bile acid induces apoptosis in human nephroblastoma cells: a non-selective treatment option
Trah J, Arand J, Oh J, Pagerols-Raluy L, Trochimiuk M, Appl B, Heidelbach H, Vincent D, Saleem M, Reinshagen K, Mühlig A, Boettcher M
SCI REP-UK. 2020;10(1):20349.

Long-term cognitive deficits in pediatric low-grade glioma (LGG) survivors reflect pretreatment conditions-report from the German LGG studies
Traunwieser T, Kandels D, Pauls F, Pietsch T, Warmuth-Metz M, Bison B, Krauss J, Kortmann R, Timmermann B, Thomale U, Luettich P, Neumann-Holbeck A, Tischler T, Hernáiz Driever P, Witt O, Gnekow A
NEURO-ONCOL ADV. 2020;2(1):.

Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints
van der Lee J, Morton J, Adams H, Clarke L, Eisengart J, Escolar M, Giugliani R, Harmatz P, Hogan M, Kearney S, Muenzer J, Muschol N, Rust S, Saville B, Semrud-Clikeman M, Wang R, Shapiro E
MOL GENET METAB. 2020;131(1-2):181-196.

Intravesical monitoring of intra-abdominal pressure after renal transplantation in children: A safety and feasibility study
Wagner J, Herden U, Fischer L, Schild R, Vettorazzi E, Herrmann J, Ebenebe C, Singer D, Deindl P
PEDIATR TRANSPLANT. 2020;24(7):e13781.

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
Wagner M, Lévy J, Jung-Klawitter S, Bakhtiari S, Monteiro F, Maroofian R, Bierhals T, Hempel M, Elmaleh-Bergès M, Kitajima J, Kim C, Salomao J, Amor D, Cooper M, Perrin L, Pipiras E, Neu A, Doosti M, Karimiani E, Toosi M, Houlden H, Jin S, Si Y, Rodan L, Venselaar H, Kruer M, Kok F, Hoffmann G, Strom T, Wortmann S, Tabet A, Opladen T
GENET MED. 2020;22(6):1061-1068.

Application of two different nasal CPAP levels for the treatment of respiratory distress syndrome in preterm infants-"The OPTTIMMAL-Trial"-Optimizing PEEP To The IMMAture Lungs: study protocol of a randomized controlled trial
Waitz M, Engel C, Schloesser R, Rochwalsky U, Meyer S, Zemlin M, Bohnhorst B, Peter C, Hoppenz M, Pabst T, Zimmer K, Franz A, Ehrhardt H, Schmidt A, Larsen A, Hoffmann P, Haertel C, Frieauff E, Sandkötter J, Masjosthusmann K, Deindl P, Singer D
TRIALS. 2020;21(1):822.

Das Mikrodeletionssyndrom 20q11–q12: Fallbericht über ein seltenes, aber rekurrentes Mikrodeletionssyndrom
Weiss D, Kortüm F, Driemeyer J, Kloth K
MONATSSCHR KINDERH. 2020.

Effect of hemodialysis on impedance cardiography (electrical velocimetry) parameters in children
Wilken M, Oh J, Pinnschmidt H, Singer D, Blohm M
PEDIATR NEPHROL. 2020;35(4):669-676.

Nine newly identified individuals refine the phenotype associated with MYT1L mutations
Windheuser I, Becker J, Cremer K, Hundertmark H, Yates L, Mangold E, Peters S, Degenhardt F, Ludwig K, Zink A, Lessel D, Bierhals T, Herget T, Johannsen J, Denecke J, Wohlleber E, Strom T, Wieczorek D, Bertoli M, Colombo R, Hempel M, Engels H
AM J MED GENET A. 2020;182(5):1021-1031.

Indoor Climate and Air Quality in a Neonatal Intensive Care Unit
Wolf M, Diehl T, Zanni S, Singer D, Deindl P
NEONATOLOGY. 2020;117(4):453-459.

A prenatally disrupted airway epithelium orchestrates the fetal origin of asthma in mice
Zazara-Giannou D, Wegmann M, Giannou A, Hierweger A, Alawi M, Thiele K, Huber S, Pincus M, Muntau A, Solano M, Arck P
J ALLERGY CLIN IMMUN. 2020;145(6):1641-1654.

Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101: Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V
Ziegler A, Wilichowski E, Schara U, Hahn A, Müller-Felber W, Johannsen J, von der Hagen M, von Moers A, Stoltenburg C, Saffari A, Walter M, Husain R, Pechmann A, Köhler C, Horber V, Schwartz O, Kirschner J
NERVENARZT. 2020;91(6):518-529.

Chorioangiom der Plazenta – eine seltene Ursache fetaler High-Output-Herzinsuffizienz
Ziemann M, Apostolidou S, Dum D, Hecher K, Singer D, Tavares de Sousa M
Z GEBURTSH NEONATOL. 2020;224(2):103-106.

Vorinostat in the acute neuroinflammatory form of X-linked adrenoleukodystrophy
Zierfuss B, Weinhofer I, Kühl J, Köhler W, Bley A, Zauner K, Binder J, Martinović K, Seiser C, Hertzberg C, Kemp S, Egger G, Leitner G, Bauer J, Wiesinger C, Kunze M, Forss-Petter S, Berger J
ANN CLIN TRANSL NEUR. 2020;7(5):639-652.

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
Andersen P, Nordström U, Tsiakas K, Johannsen J, Volk A, Bierhals T, Zetterström P, Marklund S, Hempel M, Santer R
NEW ENGL J MED. 2019;381(5):486-488.

Zinkmangel als Ursache eines „Dekubitus“ beim Frühgeborenen?
Asselborn J, Thayssen M, Lehmberg K, Apostolidou S, Singer D
Z GEBURTSH NEONATOL. 2019;223(6):369-372.

Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype
Atiskova Y, Bartsch S, Danyukova T, Becker E, Hagel C, Storch S, Bartsch U
SCI REP-UK. 2019;9(1):14185.

Oxalate retinopathy is irreversible despite early combined liver-kidney transplantation in primary hyperoxaluria type 1
Atiskova Y, Dulz S, Schmäschke K, Oh J, Grabhorn E, Kemper M, Brinkert F
AM J TRANSPLANT. 2019;19(12):3328-3334.

Retinal hyperreflective foci in Fabry disease
Atiskova Y, Rassuli R, Koehn A, Golsari A, Wagenfeld L, du Moulin M, Muschol N, Dulz S
ORPHANET J RARE DIS. 2019;14(1):296.

Low levels of urinary epidermal growth factor predict chronic kidney disease progression in children
Azukaitis K, Ju W, Kirchner M, Nair V, Smith M, Fang Z, Thurn-Valsassina D, Bayazit A, Niemirska A, Canpolat N, Bulut I, Yalcinkaya F, Paripovic D, Harambat J, Cakar N, Alpay H, Lugani F, Mencarelli F, Civilibal M, Erdogan H, Gellermann J, Vidal E, Tabel Y, Gimpel C, Ertan P, Yavascan O, Melk A, Querfeld U, Wühl E, Kretzler M, Schaefer F
KIDNEY INT. 2019;96(1):214-221.

Tissue inhibitor of metalloproteinase 1 and AST-to-Platelet Ratio Index as noninvasive biomarkers predict allograft fibrosis after pediatric liver transplantation
Beime J
CLIN TRANSPLANT. 2019.

Intravenous Artesunate for Imported Severe Malaria in Children Treated in Four Tertiary Care Centers in Germany: A Retrospective Study
Bélard S, Brand J, Schulze-Sturm U, Janda A, von Both U, Tacoli C, Alberer M, Kempf C, Stegemann M, Krüger R, Varnholt V, Blohm M, Reiter K, Zoller T, Suttorp N, Mall M, von Bernuth H, Gratopp A, Hübner J, Hufnagel M, Kobbe R, Kurth F
PEDIATR INFECT DIS J. 2019;38(11):e295-e300.

The ocular phenotype in primary hyperoxaluria type 1
Birtel J, Herrmann P, Garrelfs S, Dulz S, Atiskova Y, Diederen R, Gliem M, Brinkert F, Holz F, Boon C, Hoppe B, Issa P
AM J OPHTHALMOL. 2019;206:184-191.

Cardiovascular Biomarkers in Amniotic Fluid, Umbilical Arterial Blood, Umbilical Venous Blood, and Maternal Blood at Delivery, and Their Reference Values for Full-Term, Singleton, Cesarean Deliveries
Blohm M, Arndt F, Fröschle G, Langenbach N, Sandig J, Vettorazzi E, Mir T, Hecher K, Weil J, Kozlik-Feldmann R, Blankenberg S, Zeller T, Singer D
FRONT PEDIATR. 2019;7:271.

Greater Susceptibility for Metabolic Syndrome in Pediatric Solid Organ and Stem Cell Transplant Recipients
Blöte R, Memaran N, Borchert-Mörlins B, Thurn-Valsassina D, Goldschmidt I, Beier R, Sauer M, Müller C, Sarganas G, Oh J, Büscher R, Kemper M, Sugianto R, Epping J, Schmidt B, Melk A
TRANSPLANTATION. 2019;103(11):2423-2433.

Clostridium difficile infection after pediatric solid organ transplantation: a practical single-center experience
Breuer C, Döring S, Rohde H, Rutkowski S, Müller I, Oh J
PEDIATR NEPHROL. 2019;34(7):1269-1275.

Influenza binds phosphorylated glycans from human lung
Byrd-Leotis L, Jia N, Dutta S, Trost J, Gao C, Cummings S, Braulke T, Müller-Loennies S, Heimburg-Molinaro J, Steinhauer D, Cummings R
SCI ADV. 2019;5(2):.

Hibernating astronauts - science or fiction?
Choukèr A, Bereiter-Hahn J, Singer D, Heldmaier G
PFLUG ARCH EUR J PHY. 2019;471:819-828.

Patient reported outcomes in Friedreich's Ataxia after withdrawal from Idebenone
Cook A, Boesch S, Heck S, Brunt E, Klockgether T, Schöls L, Schulz A, Giunti P
ACTA NEUROL SCAND. 2019;139(6):533-539.

Monitoring intra-abdominal pressure after liver transplantation in children
Deindl P, Wagner J, Herden U, Schulz-Jürgensen S, Schild R, Vettorazzi E, Bergers M, Keck M, Singer D, Fischer L, Herrmann J
PEDIATR TRANSPLANT. 2019;23(7):e13565.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
Dines J, Golden-Grant K, LaCroix A, Muir A, Cintrón D, McWalter K, Cho M, Sun A, Merritt L, Thies J, Niyazov D, Burton B, Kim K, Fleming L, Westman R, Karachunski P, Dalton J, Basinger A, Ficicioglu C, Helbig I, Pendziwiat M, Muhle H, Helbig K, Caliebe A, Santer R, Becker K, Suchy S, Douglas G, Millan F, Begtrup A, Monaghan K, Mefford H
GENET MED. 2019;21(3):601-607.

Radiation exposure by digital radiographic imaging in very low birth weight infants
Ebenebe C, Barreau C, Waschkewitz J, Schlattl H, Pinnschmidt H, Deindl P, Singer D, Herrmann J
J PERINATOL. 2019;39(1):115-119.

Diagnostic accuracy of interleukin-6 for early-onset sepsis in preterm neonates
Ebenebe C, Hesse F, Blohm M, Jung R, Kunzmann S, Singer D
J MATERN-FETAL NEO M. 2019 [Epub ahead of print];1-6.

The German National Registry of Primary Immunodeficiencies (2012-2017)
El-Helou S, Biegner A, Bode S, Ehl S, Heeg M, Maccari M, Ritterbusch H, Speckmann C, Rusch S, Scheible R, Warnatz K, Atschekzei F, Beider R, Ernst D, Gerschmann S, Jablonka A, Mielke G, Schmidt R, Schürmann G, Sogkas G, Baumann U, Klemann C, Viemann D, von Bernuth H, Krüger R, Hanitsch L, Scheibenbogen C, Wittke K, Albert M, Eichinger A, Hauck F, Klein C, Rack-Hoch A, Sollinger F, Avila A, Borte M, Borte S, Fasshauer M, Hauenherm A, Kellner N, Müller A, Ülzen A, Bader P, Bakhtiar S, Lee J, Heß U, Schubert R, Wölke S, Zielen S, Ghosh S, Laws H, Neubert J, Oommen P, Hönig M, Schulz A, Steinmann S, Schwarz K, Dückers G, Lamers B, Langemeyer V, Niehues T, Shai S, Graf D, Müglich C, Schmalzing M, Schwaneck E, Tony H, Dirks J, Haase G, Liese J, Morbach H, Foell D, Hellige A, Wittkowski H, Masjosthusmann K, Geberzahn L, Hedrich C, Müller C, Rösen-Wolff A, Roesler J, Zimmermann A, Behrends U, Rieber N, Schauer U, Handgretinger R, Holzer U, Henes J, Kanz L, Boesecke C, Rockstroh J, Schwarze-Zander C, Wasmuth J, Dilloo D, Hülsmann B, Schönberger S, Schreiber S, Zeuner R, Ankermann T, von Bismarck P, Huppertz H, Kaiser-Labusch P, Greil J, Jakoby D, Kulozik A, Metzler M, Naumann-Bartsch N, Sobik B, Graf N, Heine S, Kobbe R, Lehmberg K, Müller I, Herrmann F, Horneff G, Klein A, Peitz J, Schmidt N, Bielack S, Groß-Wieltsch U, Classen C, Klasen J, Deutz P, Kamitz D, Lassay L, Tenbrock K, Wagner N, Bernbeck B, Brummel B, Lara-Villacanas E, Münstermann E, Schneider D, Tietsch N, Westkemper M, Weiß M, Kramm C, Kühnle I, Kullmann S, Girschick H, Specker C, Vinnemeier-Laubenthal E, Haenicke H, Schweigerer L, Müller T, Stiefel M, Belohradsky B, Soetedjo V, Kindle G, Grimbacher B
FRONT IMMUNOL. 2019;10:1272.

The Contribution of Homocysteine Metabolism Disruption to Endothelial Dysfunction: State-of-the Art
Esse R, Barroso M, Tavares de Almeida I, Castro R
INT J MOL SCI. 2019;20(4):.

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease
Gardner E, Bailey M, Schulz A, Aristorena M, Miller N, Mole S
HUM MUTAT. 2019;40(11):1924-1938.

Wärmehaushalt und Temperaturregulation
Gekle M, Singer D
2019. Physiologie. Pape H, Kurtz A, Silbernagl S (Hrsg.). 9. Aufl. Stuttgart: Georg Thieme Verlag KG, 570-587.

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people
Gimpel C, Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai M, Cetiner M, Dudley J, Emma F, Konrad M, Harris T, Harris P, König J, Liebau M, Marlais M, Mekahli D, Metcalfe A, Oh J, Perrone R, Sinha M, Titieni A, Torra R, Weber S, Winyard P, Schaefer F
NAT REV NEPHROL. 2019;15(11):713-726.

Pain and Sedation Scales for Neonatal and Pediatric Patients in a Preverbal Stage of Development: A Systematic Review
Giordano V, Edobor J, Deindl P, Wildner B, Goeral K, Steinbauer P, Werther T, Berger A, Olischar M
JAMA PEDIATR. 2019.

Dorsal root ganglia volume is increased in patients with the Fabry-related GLA variant p.D313Y
Godel T, Bäumer P, Stumpfe K, Muschol N, Kronlage M, Brunnée M, Kollmer J, Heiland S, Bendszus M, Mautner V
J NEUROL. 2019;266(6):1332-1339.

B-Flow Sonography for Evaluation of Basal Cerebral Arteries in Newborns
Groth M, Ernst M, Deindl P, Herrmann J
CLIN NEURORADIOL. 2019;2019(1):.

Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26
Guder P, Lotz-Havla A, Woidy M, Reiß D, Danecka M, Schatz U, Becker M, Ensenauer R, Pagel P, Büttner L, Muntau A, Gersting S
BBA-MOL CELL RES. 2019;1866(3):518-531.

Acute dialysis in children: Results of a European Survey.
Guzzo I, de Galasso L, Mir S, Bulut I, Jankauskiene A, Burokiene V, Cvetkovic M, Kostic M, Bayazit A, Yildizdas D, Schmitt C, Paglialonga F, Montini G, Yilmaz E, Oh J, Weber L, Taylan C, Hayes W, Shroff R, Vidal E, Murer L, Mencarelli F, Pasini A, Teixeira A, Afonso A, Drozdz D, Schaefer F, Picca S
J NEPHROL. 2019;32(3):445-451.

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C
J INHERIT METAB DIS. 2019;42(6):1192-1230.

Impact on the hepatic flow velocity after pediatric combined liver-kidney transplantation compared to isolated pediatric liver transplantation-A matched-pair analysis
Hellenkemper J, Grabhorn E, Brinkert F, Lenhartz H, Herrmann J, Fischer L, Helmke K, Herden U
CLIN TRANSPLANT. 2019;33(10):e13687.

Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus
Himmelreich N, Dimitrov B, Geiger V, Zielonka M, Hutter A, Beedgen L, Hüllen A, Breuer M, Peters V, Thiemann K, Hoffmann G, Sinning I, Dupré T, Vuillaumier-Barrot S, Barrey C, Denecke J, Kölfen W, Düker G, Ganschow R, Lentze M, Moore S, Seta N, Ziegler A, Thiel C
HUM MUTAT. 2019;40(7):938-951.

Epidemiology of and Risk Factors for BK Polyomavirus Replication and Nephropathy in Pediatric Renal Transplant Recipients: An International CERTAIN Registry Study
Höcker B, Schneble L, Murer L, Carraro A, Pape L, Kranz B, Oh J, Zirngibl M, Dello Strologo L, Büscher A, Weber L, Awan A, Pohl M, Bald M, Printza N, Rusai K, Peruzzi L, Topaloglu R, Fichtner A, Krupka K, Köster L, Bruckner T, Schnitzler P, Hirsch H, Tönshoff B
TRANSPLANTATION. 2019;103(6):1224-1233.

"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay
Jahic A, Günther S, Muschol N, Fossøy Stadheim B, Braaten Ø, Kjensli Hyldebrandt H, Kuiper G, Tylee K, Wijburg F, Beetz C
MOL GENET GENOM MED. 2019;7(9):e00615.

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
Johannesen K, Mitter D, Janowski R, Roth C, Toulouse J, Poulat A, Ville D, Chatron N, Brilstra E, Geleijns K, Born A, McLean S, Nugent K, Baynam G, Poulton C, Dreyer L, Gration D, Schulz S, Dieckmann A, Helbig K, Merkenschlager A, Jamra R, Finck A, Gardella E, Hjalgrim H, Mirzaa G, Brancati F, Bierhals T, Denecke J, Hempel M, Lemke J, Rubboli G, Muschke P, Guerrini R, Vetro A, Niessing D, Lesca G, Møller R
NEUROL-GENET. 2019;5(6):e373.

Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant
Johannsen J, Bierhals T, Deindl P, Hecher L, Hermann K, Hempel M, Kloth K, Denecke J
J PEDIATR GENET. 2019;8(4):222-225.

Shiga toxin signals via ATP and its effect is blocked by purinergic receptor antagonism
Johansson K, Ståhl A, Arvidsson I, Loos S, Tontanahal A, Rebetz J, Chromek M, Kristoffersson A, Johannes L, Karpman D
SCI REP-UK. 2019;9(1):14362.

Sexualfunktionen, Schwangerschaft und Geburt
Kämmerer U, Garnier Y, Singer D
2019. Physiologie. Pape H, Kurtz A, Silbernagl S (Hrsg.). 9. Aufl. Stuttgart: Georg Thieme Verlag KG, 639-674.

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan T, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy J, McCormick E, Hakonarson H, Falk M, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp C, Nibbeling E, Dingemans A, Douine E, Nelson S, , Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda V, Newbury-Ecob R
GENET MED. 2019;21(4):850-860.

Die Expression des Sphingosin-1-Phosphat-Rezeptors 1 in Plaque humaner A. iliaca und A. femoralis: Eine histologische Untersuchung
Kleinbercher P
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Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Klemann C, Camacho-Ordonez N, Yang L, Eskandarian Z, Rojas-Restrepo J, Frede N, Bulashevska A, Heeg M, Al-Ddafari M, Premm J, Seidl M, Ammann S, Sherkat R, Radhakrishnan N, Warnatz K, Unger S, Kobbe R, Hüfner A, Leahy T, Ip W, Burns S, Fliegauf M, Grimbacher B
FRONT IMMUNOL. 2019;10:297.

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
Kloth K, Bierhals T, Johannsen J, Harms F, Juusola J, Johnson M, Grange D, Kutsche K
HUM GENET. 2019;138(6):625-634.

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
Kloth K, Synofzik M, Kernstock C, Schimpf-Linzenbold S, Schuettauf F, Neu A, Wissinger B, Weisschuh N
BMC MED GENET. 2019;20(1):62.

Obstructive sleep apnea and craniofacial appearance in MPS type I-Hurler children after hematopoietic stem cell transplantation
Koehne T, Müller-Stöver S, Köhn A, Stumpfe K, Lezius S, Schmid C, Lukacs Z, Kahl-Nieke B, Muschol N
SLEEP BREATH. 2019;23(4):1315-1321.

Zufallsbefund: Milchiges Blut bei einem jungen Säugling
Kohl A, Blohm M, Schmitt C, Singer D
Z GEBURTSH NEONATOL. 2019;223(4):249-250.

Frühzeitige Diagnose einer seltenen Krankheit bei Kindern durchbessere Kommunikation zwischen Eltern, niedergelassenen Ärztenund spezialisierten Zentren
Kohlschütter A, Bussche van den H
Z EVIDENZ FORTBILD Q. 2019;2019(141-142):18-23.

Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses
Kohlschütter A, Schulz A, Bartsch U, Storch S
CNS DRUGS. 2019;33(4):315-325.

Nestin progenitor cells isolated from adult human sweat gland stroma promote reepithelialisation and may stimulate angiogenesis in wounded human skin ex vivo
Liao T, Lehmann J, Sternstein S, Yay A, Zhang G, Matthießen A, Schumann S, Siemers F, Kruse C, Hundt J, Langan E, Tiede S, Paus R
ARCH DERMATOL RES. 2019;311(4):325-330.

Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease
Lukacs Z, Nickel M, Murko S, Nieves Cobos P, Schulz A, Santer R, Kohlschütter A
CLIN CHIM ACTA. 2019;492:69-71.

Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness
Mahler E, Johannsen J, Tsiakas K, Kloth K, Lüttgen S, Mühlhausen C, Alhaddad B, Haack T, Strom T, Kortüm F, Meitinger T, Muntau A, Santer R, Kubisch C, Lessel D, Denecke J, Hempel M
DTSCH ARZTEBL INT. 2019;116(12):197-204.

The CLN3 gene and protein: What we know
Mirza M, Vainshtein A, DiRonza A, Chandrachud U, Haslett L, Palmieri M, Storch S, Groh J, Dobzinski N, Napolitano G, Schmidtke C, Kerkovich D
MOL GENET GENOM MED. 2019;7(12):e859.

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis
Mole S, Anderson G, Band H, Berkovic S, Cooper J, Kleine Holthaus S, McKay T, Medina D, Rahim A, Schulz A, Smith A
LANCET NEUROL. 2019;18(1):107-116.

Levamisole in Children with Idiopathic Nephrotic Syndrome: Clinical Efficacy and Pathophysiological Aspects
Mühlig A, Lee J, Kemper M, Kronbichler A, Yang J, Lee J, Shin J, Oh J
J CLIN MED. 2019;8(6):.

International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria
Muntau A, Adams D, Bélanger-Quintana A, Bushueva T, Cerone R, Chien Y, Chiesa A, Coşkun T, de Las Heras J, Feillet F, Katz R, Lagler F, Piazzon F, Rohr F, van Spronsen F, Vargas P, Wilcox G, Bhattacharya K
MOL GENET METAB. 2019;127(1):1-11.

Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)
Muschol N, Pape D, Kossow K, Ullrich K, Arash-Kaps L, Hennermann J, Stücker R, Breyer S
ORPHANET J RARE DIS. 2019;14(1):93.

Reducing Hematologic Toxicity With Short Course Postexposure Prophylaxis With Zidovudine for HIV-1 Exposed Infants With Low Transmission Risk
Nguyen T, Kobbe R, Schulze-Sturm U, Blohm M, Hollwitz B, Hertling S, Becker C, Oommen P, Laws H, Martignoni F, Ole Jensen B, Olah K, Schmidtke S, Kreuels B, Vasconcelos M, Neubert J
PEDIATR INFECT DIS J. 2019;38(7):727-730.

HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.
Okorn C, Goertz A, Vester U, Beck B, Bergmann C, Habbig S, König J, Konrad M, Müller D, Oh J, Ortiz-Brüchle N, Patzer L, Schild R, Seeman T, Staude H, Thumfart J, Tönshoff B, Walden U, Weber L, Zaniew M, Zappel H, Hoyer P, Weber S
PEDIATR NEPHROL. 2019;34(6):1065-1075.

Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Paine I, Posey J, Grochowski C, Jhangiani S, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung W, Wong B, Ortega L, Bekheirnia M, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White J, Wilichowski E, Wortmann S, Casella E, Kitajima J, Kok F, Monteiro F, Muzny D, Bamshad M, Gibbs R, Sutton V, , Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver I, Glass I, Lessel D, Lyon G, Lupski J
AM J HUM GENET. 2019;105(2):302-316.

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
Pehlivan D, Bayram Y, Gunes N, Coban Akdemir Z, Shukla A, Bierhals T, Tabakci B, Sahin Y, Gezdirici A, Fatih J, Gulec E, Yesil G, Punetha J, Ocak Z, Grochowski C, Karaca E, Albayrak H, Radhakrishnan P, Erdem H, Sahin I, Yildirim T, Bayhan I, Bursali A, Elmas M, Yuksel Z, Ozdemir O, Silan F, Yildiz O, Yesilbas O, Isikay S, Balta B, Gu S, Jhangiani S, Doddapaneni H, Hu J, Muzny D, , Boerwinkle E, Gibbs R, Tsiakas K, Hempel M, Girisha K, Gul D, Posey J, Elcioglu N, Tuysuz B, Lupski J
AM J HUM GENET. 2019;105(1):132-150.

Target body temperature in very low birth weight infants: clinical consensus in place of scientific evidence
Perez A, van der Meer F, Singer D
FRONT PEDIATR. 2019;7:227.

Fatigue in pediatric liver transplant recipients and its impact on their quality of life
Petersen I, Noelle J, Buchholz A, Kroencke S, Daseking M, Grabhorn E
PEDIATR TRANSPLANT. 2019;23(1):e13331.

Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria
Pilotto A, Blau N, Leks E, Schulte C, Deuschl C, Zipser C, Piel D, Freisinger P, Gramer G, Kölker S, Haas D, Burgard P, Nawroth P, Georg H, Scheffler K, Berg D, Trefz F
J INHERIT METAB DIS. 2019;42(3):398-406.

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
Renner S, Schüler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark V, Olfe J, Roser E, Seggewies F, Mahlmann A, Hempel M, Hartmann M, Hillebrand M, Wieczorek D, Volk A, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmüller J, Wey-Fabrizius A, Petersen C, Rau I, Borck G, Kubisch C, Mir T, von Kodolitsch Y, Kutsche K, Rosenberger G
GENET MED. 2019;21(8):1832-1841.

de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation
Schneeberger P, Bierhals T, Neu A, Hempel M, Kutsche K
SCI REP-UK. 2019;9(1):12516.

Diagnosis, Therapy and Follow-up of Vaginal Cancer and Its Precursors. Guideline of the DGGG and the DKG (S2k-Level, AWMF Registry No. 032/042, October 2018)
Schnürch H, Ackermann S, Alt-Radtke C, Angleitner L, Barinoff J, Beckmann M, Böing C, Dannecker C, Fehm T, Gaase R, Gass P, Gebhardt M, Gieseking F, Günthert A, Hack C, Hantschmann P, Horn L, Koch M, Letsch A, Mallmann P, Mangold B, Marnitz S, Mehlhorn G, Paradies K, Reinhardt M, Tholen R, Torsten U, Weikel W, Wölber L, Hampl M
GEBURTSH FRAUENHEILK. 2019;79(10):1060-1078.

Kindesmisshandlung: interdisziplinärer Kinderschutz
Seifert D, Ewert J
Allgemein- und Viszeralchirurgie up2date. 2019;2019(13):419 - 437.

Kindesmisshandlung: interdisziplinärer Kinderschutz.
Seifert D, Ewert J
ANASTH INTENSIV NOTF. 2019;2019(54):1 - 20.

Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data
Shapiro E, Lourenço C, Mungan N, Muschol N, O'Neill C, Vijayaraghavan S
ORPHANET J RARE DIS. 2019;14(1):168.

Neonatologie: Versuch einer Bestandsaufnahme
Singer D
Kinder- und Jugendarzt. 2019;50:319-327.

Selbstschutzmechanismen des Neugeborenen vor Mangelversorgung
Singer D
Neonatologie Scan. 2019;8:205-220.

Anpassungsstörungen des Neugeborenen
Singer D, Deindl P
2019. Referenz Notfallmedizin. Scholz J, Gräsner J, Bohn A (Hrsg.). 1. Aufl. Stuttgart: Georg Thieme Verlag KG, 603-612.

Impact of refugee influx on the epidemiology of late-presenting HIV-infected pregnant women and mother-to-child transmission: comparing a southern and northern medical centre in Germany
Singer K, Schulze-Sturm U, Alba-Alejandre I, Hollwitz B, Nguyen T, Sollinger F, Eberle J, Hübner J, Kobbe R, Genzel-Boroviczény O, von Both U
INFECTION. 2019;47(5):847-852.

Malaria in Eritrean migrants newly arrived in seven European countries, 2011 to 2016
Sondén K, Rolling T, Wångdahl A, Ydring E, Vygen-Bonnet S, Kobbe R, Douhan J, Hammar U, Duijster J, de Gier B, Freedman J, Gysin N, Stark K, Stevens F, Vestergaard L, Tegnell A, Färnert A
EUROSURVEILLANCE. 2019;24(5):.

Correction to Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease
Stumpf S, Berghoff S, Trevisiol A, Spieth L, Düking T, Schneider L, Schlaphoff L, Dreha-Kulaczewski S, Bley A, Burfeind D, Kusch K, Mitkovski M, Ruhwedel T, Guder P, Röhse H, Denecke J, Gärtner J, Möbius W, Nave K, Saher G
ACTA NEUROPATHOL. 2019;138(4):673-674.

Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease
Stumpf S, Berghoff S, Trevisiol A, Spieth L, Düking T, Schneider L, Schlaphoff L, Dreha-Kulaczewski S, Bley A, Burfeind D, Kusch K, Mitkovski M, Ruhwedel T, Guder P, Röhse H, Denecke J, Gärtner J, Möbius W, Nave K, Saher G
ACTA NEUROPATHOL. 2019;138(1):147-161.

Nanobody-targeting of epidermal growth factor receptor (EGFR) ectodomain variants overcomes resistance to therapeutic EGFR antibodies
Tintelnot J, Baum N, Schultheiss C, Braig F, Trentmann M, Finter J, Fumey W, Bannas P, Fehse B, Riecken K, Schütze K, Bokemeyer C, Rösner T, Valerius T, Peipp M, Koch-Nolte F, Binder M
MOL CANCER THER. 2019;18(4):823-833.

Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data
Trefz K, Muntau A, Kohlscheen K, Altevers J, Jacob C, Braun S, Greiner W, Jha A, Jain M, Alvarez I, Lane P, Schröder C, Rutsch F
ORPHANET J RARE DIS. 2019;14(1):181.

A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia
Tunc S, Denecke J, Olschewski L, Bäumer T, Münchau A, Lessel D, Lohmann K
J NEUROL SCI. 2019;396:199-201.

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations
Velho R, Harms F, Danyukova T, Ludwig N, Friez M, Cathey S, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee K, Brammeier K, Heptinstall L, Oussoren E, van der Ploeg A, Petersen C, Alves S, Saavedra G, Schwartz I, Muschol N, Kutsche K, Pohl S
HUM MUTAT. 2019;40(7):842-864.

A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival.
von Kleist L, Ariunbat K, Braren I, Stauber T, Storch S, Danyukova T
MOL GENET METAB. 2019;126(2):196-205.

Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial
Wijburg F, Whitley C, Muenzer J, Gasperini S, Del Toro M, Muschol N, Cleary M, Sevin C, Shapiro E, Bhargava P, Kerr D, Alexanderian D
MOL GENET METAB. 2019;126(2):121-130.

Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease

J PEDIATR-US. 2018;199:22-28.e6.

Erfolgreiche Kardioversion bei neonatalem Vorhofflattern
Apostolidou S, Stute F, Tavares-de-Sousa M, Hecher K, Arndt F, Kozlik-Feldmann R, Singer D
Z GEBURTSH NEONATOL. 2018;222(4):169-170.

Aquaporins and hypomethylation in endothelia: Implications in cardiovascular disease
Barroso M
FEBS OPEN BIO. 2018.

Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report
Berger-Groch J, Rupprecht M, Stuecker R, Muschol N, Breyer S
Journal of orthopaedic case reports. 2018;8(5):50-53.

Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa
Berger K, Burton B, Lewis G, Tarnopolsky M, Harmatz P, Mitchell J, Muschol N, Jones S, Sutton V, Pastores G, Lau H, Sparkes R, Shaywitz A
JIMD reports. 2018;42:9-17.

Newborn screening, a disease-changing intervention for glutaric aciduria type 1
Boy N, Mengler K, Thimm E, Schiergens K, Marquardt T, Weinhold N, Marquardt I, Das A, Freisinger P, Grünert S, Vossbeck J, Steinfeld R, Baumgartner M, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer J, Hoffmann G, Mühlhausen C, Maier E, Ensenauer R, Garbade S, Kölker S
ANN NEUROL. 2018;83(5):970-979.

Hip Morphology in MPS-1H Patients: An MRI-based Study
Breyer S, Muschol N, Schmidt M, Rupprecht M, Babin K, Herrmann J, Stücker R
J PEDIATR ORTHOPED. 2018;38(9):478-483.

Allogeneic haematopoietic stem cell transplantation eliminates alloreactive inhibitory antibodies after liver transplantation for bile salt export pump deficiency
Brinkert F, Pukite I, Krebs-Schmitt D, Briem-Richter A, Stindt J, Häussinger D, Keitel V, Müller I, Grabhorn E
J HEPATOL. 2018;69(4):961-965.

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data
Chapman K, Gramer G, Viall S, Summar M
MOL GENET METAB REP. 2018;15:106-109.

Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation
Danyukova T, Ariunbat K, Thelen M, Brocke-Ahmadinejad N, Mole S, Storch S
HUM MOL GENET. 2018;27(10):1711-1722.

Endothelial Aquaporins and Hypomethylation: Potential Implications for Atherosclerosis and Cardiovascular Disease
da Silva I, Barroso M, Moura T, Castro R, Soveral G
INT J MOL SCI. 2018;19(1):130.

Arterial catheterisation in neonates can result in severe ischaemic complications but does not impair long-term extremity function
Deindl P, Waldhör T, Unterasinger L, Berger A, Keck M
ACTA PAEDIATR. 2018;107(2):240-248.

Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells
Di Lorenzo G, Velho R, Winter D, Thelen M, Ahmadi S, Schweizer M, De Pace R, Cornils K, Yorgan T, Grüb S, Hermans-Borgmeyer I, Schinke T, Müller-Loennies S, Braulke T, Pohl S
MOL CELL PROTEOMICS. 2018;17(8):1612-1626.

Genotype-phenotype variability of retinal manifestation in primary hyperoxaluria type 1
Dulz S, Bigdon E, Atiskova Y, Schuettauf F, Cerkauskiene R, Oh J, Brinkert F
OPHTHALMIC GENET. 2018;39(2):275-277.

p.D313Y is more than just a polymorphism in Fabry disease
du Moulin M, Muschol N
CLIN GENET. 2018;93(6):1258.

Meningitis
Dunay G
2018. Antiinfektiva-Leitfaden Pädiatrie. Kobbe R, Schulze-Sturm U, Hennings A, Hilgarth H, Jochum J (Hrsg.). 64.

Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism
Eichinger A, Danecka M, Möglich T, Borsch J, Woidy M, Büttner L, Muntau A, Gersting S
HUM MOL GENET. 2018;27(10):1732-1742.

Recessive mutations in >VPS13D cause childhood-onset movement disorders
Gauthier J, Meijer I, Lessel D, Mencacci N, Krainc D, Hempel M, Tsiakas K, Prokisch H, Rossignol E, Helm M, Rodan L, Karamchandani J, Carecchio M, Lubbe S, Telegrafi A, Henderson L, Lorenzo K, Wallace S, Glass I, Hamdan F, Michaud J, Rouleau G, Campeau P
ANN NEUROL. 2018;83(6):1089-1095.

Wärmehaushalt und Temperaturregulation
Gekle M, Singer D
2018. Physiologie. Pape H, Kurtz A, Silbernagl S (Hrsg.). 8. Aufl. Stuttgart: Georg Thieme Verlag KG, 566-584.

Effect of increased opiate exposure on three years neurodevelopmental outcome in extremely preterm infants
Giordano V, Deindl P, Fuiko R, Unterasinger L, Waldhoer T, Cardona F, Berger A, Olischar M
EARLY HUM DEV. 2018;123:1-5.

The power of N-PASS, aEEG, and BIS in detecting different levels of sedation in neonates: A preliminary study
Giordano V, Deindl P, Goeral K, Czaba C, Weninger M, Berger A, Olischar M, Werther T
PEDIATR ANESTH. 2018;28(12):1096-1104.

Dorsal root ganglia in vivo morphometry and perfusion in female patients with Fabry disease
Godel T, Köhn A, Muschol N, Kronlage M, Schwarz D, Kollmer J, Heiland S, Bendszus M, Mautner V, Bäumer P
J NEUROL. 2018;265(11):2723-2729.

High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel
Gramer G, Fang-Hoffmann J, Feyh P, Klinke G, Monostori P, Okun J, Hoffmann G
WORLD J PEDIATR. 2018;14(5):470-481.

Stage of visual field loss and age at diagnosis in 1988 patients with different glaucomas: implications for glaucoma screening and driving ability
Gramer G, Gramer E
INT OPHTHALMOL. 2018;38(2):429-441.

An optimized whole blood assay measuring expression and activity of NLRP3, NLRC4 and AIM2 inflammasomes
Grinstein L, Endter K, Hedrich C, Reinke S, Luksch H, Schulze F, Robertson A, Cooper M, Rösen-Wolff A, Winkler S
CLIN IMMUNOL. 2018;191:100-109.

Sehstörung und Parästhesien mit seltener Ursache
Guder P, Johannsen J, Weiss D, Lischka T, Denecke J
MONATSSCHR KINDERH. 2018.

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
Harms F, Kloth K, Bley A, Denecke J, Santer R, Lessel D, Hempel M, Kutsche K
AM J HUM GENET. 2018;103(4):579-591.

Presentation of pediatric Henoch-Schönlein purpura nephritis changes with age and renal histology depends on biopsy timing
Hennies I, Gimpel C, Gellermann J, Möller K, Mayer B, Dittrich K, Büscher A, Hansen M, Aulbert W, Wühl E, Nissel R, Schalk G, Weber L, Pohl M, Wygoda S, Beetz R, Klaus G, Fehrenbach H, König S, Staude H, Beringer O, Bald M, Walden U, von Schnakenburg C, Bertram G, Wallot M, Häffner K, Wiech T, Hoyer P, Pohl M
PEDIATR NEPHROL. 2018;33(2):277-286.

JC polyomavirus replication and associated disease in pediatric renal Transplantation: an international CERTAIN Registry study
Höcker B, Tabatabai J, Schneble L, Oh J, Thiel F, Pape L, Rusai K, Topaloglu R, Kranz B, Klaus G, Printza N, Yavascan O, Fichtner A, Krupka K, Bruckner T, Waldherr R, Pawlita M, Schnitzler P, Hirsch H, Tönshoff B
PEDIATR NEPHROL. 2018;33(12):2343-2352.

Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a
Holsten T, Tsiakas K, Kordes U, Bison B, Pietsch T, Rutkowski S, Santer R, Schüller U
CHILD NERV SYST. 2018;34(3):581-584.

A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
Johannsen J, Kortüm F, Rosenberger G, Bokelmann K, Schirmer M, Denecke J, Santer R
NEUROGENETICS. 2018;19(3):151-156.

Cystinose: Diagnostik, cystinentspeichernde Therapie und Transition
Kaufeld J, Weber L, Kurschat C, Canaan-Kuehl S, Brand E, Oh J, Pape L
INTERNIST. 2018;59(8):861-867.

Multimodal lipid-lowering treatment in pediatric patients with homozygous familial hypercholesterolemia-target attainment requires further increase of intensity
Klaus G, Taylan C, Büscher R, Schmitt C, Pape L, Oh J, Driemeyer J, Galiano M, König J, Schürfeld C, Spitthöver R, Schaefer J, Weber L, Heibges A, Klingel R
PEDIATR NEPHROL. 2018;33(7):1199-1208.

Dunkelziffer nicht-akzidenteller thermischer Verletzungen im Kindesalter – Kinderschutzstrategien zur Reduktion
Klinke M, Schmidt C, Tegtmeyer L, Reinshagen K, Boettcher M, Koenigs I
KLIN PADIATR. 2018;230(2):61-67.

Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study
Koehne T, Köhn A, Friedrich R, Kordes U, Schinke T, Muschol N, Kahl-Nieke B
CLIN ORAL INVEST. 2018;22(3):1541-1549.

Psychosoziale Evaluation von Transplantationspatienten – Empfehlungen für die Richtlinien zur Organtransplantation
Kröncke S, Greif-Higer G, Albert W, de Zwaan M, Erim Y, Eser-Valeri D, Papachristou C, Petersen I, Schulz K, Tigges-Limmer K, Vitinius F, Ziegler K, Künsebeck H
PSYCHOTHER PSYCH MED. 2018;68(5):179-184.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
Lessel D, Gehbauer C, Bramswig N, Schluth-Bolard C, Venkataramanappa S, van Gassen K, Hempel M, Haack T, Baresic A, Genetti C, Funari M, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Lüdecke H, Lerario A, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto M, Gauthier J, Hamdan F, Laberge A, Campeau P, Louie R, Cathey S, Prinz I, Jorge A, Terhal P, Lenhard B, Wieczorek D, Strom T, Agrawal P, Britsch S, Tolosa E, Kubisch C
BRAIN. 2018;141(8):2299-2311.

Venous anastomosis by piggyback technique to avoid twisting of the pediatric en bloc kidney grafts
Li J, Schild R, Herrmann J, Oh J, Fischer L, Koch M
PEDIATR TRANSPLANT. 2018;22(2):e13132.

Causes of renal oligohydramnios - impact on prenatal counseling and postnatal outcome
Loos S, Kemper M
PEDIATR NEPHROL. 2018;33(4):541-545.

Eculizumab in STEC-HUS - need for a proper randomized controlled trial
Loos S, Oh J, Kemper M
PEDIATR NEPHROL. 2018;33(8):1277-1281.

Serum Biomarkers of Endothelial Dysfunction in Fabry Associated Cardiomyopathy
Loso J, Lund N, Avanesov M, Muschol N, Lezius S, Cordts K, Schwedhelm E, Patten M
FRONT CARDIOVASC MED. 2018;5:108.

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis
Lund A, Borgwardt L, Cattaneo F, Ardigò D, Geraci S, Gil-Campos M, De Meirleir L, Laroche C, Dolhem P, Cole D, Tylki-Szymanska A, Lopez-Rodriguez M, Guillén-Navarro E, Dali C, Héron B, Fogh J, Muschol N, Phillips D, Van den Hout J, Jones S, Amraoui Y, Harmatz P, Guffon N
J INHERIT METAB DIS. 2018;41(6):1225-1233.

Vorhersage der Analgosedierungstiefe bei pädiatrischen Intensivpatienten mit Hilfe des Bispektral-Index
Mauritz M
2018.

Universal screening for latent and active tuberculosis (TB) in asylum seeking children, Bochum and Hamburg, Germany, September 2015 to November 2016
Mueller-Hermelink M, Kobbe R, Methling B, Rau C, Schulze-Sturm U, Auer I, Ahrens F, Brinkmann F
EUROSURVEILLANCE. 2018;23(12):4-9.

Pädiatrie hoch2
Muntau A
2018.

Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age
Muntau A, du Moulin M, Feillet F
ORPHANET J RARE DIS. 2018;13(1):173.

Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study
Nickel M, Simonati A, Jacoby D, Lezius S, Kilian D, Van de Graaf B, Pagovich O, Kosofsky B, Yohay K, Downs M, Slasor P, Ajayi T, Crystal R, Kohlschütter A, Sondhi D, Schulz A
LANCET CHILD ADOLESC. 2018;2(8):582-590.

Ertrinkungsunfälle bei Kindern und Jugendlichen
Olfe J, Gottschalk U, Singer D
Notfallmedizin up2date. 2018;13(02):187-207.

Ertrinkungsunfälle bei Kindern und Jugendlichen
Olfe J, Gottschalk U, Singer D
Pädiatrie up2date. 2018;13(04):371-392.

Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany
Pechmann A, Langer T, Schorling D, Stein S, Vogt S, Schara U, Kölbel H, Schwartz O, Hahn A, Giese K, Johannsen J, Denecke J, Weiß C, Theophil M, Kirschner J
J NEUROMUSCULAR DIS. 2018;5(2):135-143.

Psychologische Grundlagen der pädiatrischen Lebertransplantation
Petersen I, Dechow A, Schulz K
PSYCHOTHER PSYCH MED. 2018;68(5):212-224.

The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover
Pohl S, Angermann A, Jeschke A, Hendrickx G, Yorgan T, Makrypidi-Fraune G, Steigert A, Kuehn S, Rolvien T, Schweizer M, Koehne T, Neven M, Winter O, Velho R, Albers J, Streichert T, Pestka J, Baldauf C, Breyer S, Stuecker R, Muschol N, Cox T, Saftig P, Paganini C, Rossi A, Amling M, Braulke T, Schinke T
J BONE MINER RES. 2018;33(12):2186-2201.

Autophagic vacuolar myopathy is a common feature in CLN3 disease
Radke J, Koll R, Gill E, Wiese L, Schulz A, Kohlschütter A, Schuelke M, Hagel C, Stenzel W, Goebel H
ANN CLIN TRANSL NEUR. 2018;5(11):1385-1393.

Immunosuppression as effective therapy for eosinophilic cholangiopathy: A case series and review of the literature
Reher D, Schramm C, Brinkert F, Weidemann S, Plauth M, Lohse A, Weiler-Normann C
GastroHep. 2018;1(1):33-44.

Immunosuppression as efficient therapy for Eosinophilic Cholangitis: A case series and review of the literature
Reher D, Schramm C, Brinkert F, Weidemann S, Plauth M, Lohse A, Weiler-Normann C
2018. Zeitschrift für Gastroenterologie. 01. Aufl. Georg Thieme Verlag KG, E2-E89.

Sexualfunktionen, Schwangerschaft und Geburt
Rieger L, Kämmerer U, Singer D
2018. Physiologie. Pape H, Kurtz A, Silbernagl S (Hrsg.). 8. Aufl. Stuttgart: Georg Thieme Verlag KG, 635-670.

Neutral pH and low-glucose degradation product dialysis fluids induce major early alterations of the peritoneal membrane in children on peritoneal dialysis
Schaefer B, Bartosova M, Macher-Goeppinger S, Sallay P, Vörös P, Ranchin B, Vondrak K, Ariceta G, Zaloszyc A, Bayazit A, Querfeld U, Cerkauskiene R, Testa S, Taylan C, VandeWalle J, Yap Y, Krmar R, Büscher R, Mühlig A, Drozdz D, Caliskan S, Lasitschka F, Fathallah-Shaykh S, Verrina E, Klaus G, Arbeiter K, Bhayadia R, Melk A, Romero P, Warady B, Schaefer F, Ujszaszi A, Schmitt C
KIDNEY INT. 2018;94(2):419-429.

Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity
Schmiesing J, Storch S, Dörfler A, Schweizer M, Makrypidi-Fraune G, Thelen M, Sylvester M, Gieselmann V, Meyer-Schwesinger C, Koch-Nolte F, Tidow H, Mühlhausen C, Waheed A, Sly W, Braulke T
CELL REP. 2018;24(11):2946-2956.

Study of Intraventricular Cerliponase Alfa for CLN2 Disease
Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D, Dyke J, Cahan H, Slasor P, Jacoby D, Kohlschütter A
NEW ENGL J MED. 2018;378(20):1898-1907.

Neurodegenerative Erkrankungen des Kindesalters
Schulz A, Nickel M
MED GENET-BERLIN. 2018;30(2):231-237.

Duration to Establish an Emergency Vascular Access and How to Accelerate It: A Simulation-Based Study Performed in Real-Life Neonatal Resuscitation Rooms
Schwindt E, Hoffmann F, Deindl P, Waldhoer T, Schwindt J
PEDIATR CRIT CARE ME. 2018;19(5):468-476.

Nephrotic Syndrome: Genetics, Mechanism, and Therapies
Shin J, Kronbichler A, Oh J, Meijers B
BIOMED RES INT . 2018;2018:6215946.

Combined inhibition of receptor tyrosine and p21-activated kinases as a therapeutic strategy in childhood ALL
Siekmann I, Dierck K, Prall S, Klokow M, Strauss J, Buhs S, Wrzeszcz A, Bockmayr M, Beck F, Trochimiuk M, Gottschling K, Martens V, Khosh-Naucke M, Gerull H, Müller J, Behrmann L, Blohm M, Zahedi R, Jeremias I, Sickmann A, Nollau P, Horstmann M
BLOOD ADV. 2018;2(19):2554-2567.

Physiologie des Feten
Singer D
2018. Die geburtshilfliche Anästhesie. Kranke P (Hrsg.). 1. Aufl. Berlin: Springer, 121-135.

Best practices for the use of intracerebroventricular drug delivery devices
Slavc I, Cohen-Pfeffer J, Gururangan S, Krauser J, Lim D, Maldaun M, Schwering C, Shaywitz A, Westphal M
MOL GENET METAB. 2018;124(3):184-188.

A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism
Stockebrand M, Sasani A, Das D, Hornig S, Hermans-Borgmeyer I, Lake H, Isbrandt D, Lygate C, Heerschap A, Neu A, Choe C
FRONT PHYSIOL. 2018;9:773.

Erratum zu: Operative Versorgung der degenerativen Halswirbelsäule
Tschugg A, Meyer B, Stoffel M, Vajkoczy P, Ringel F, Eicker S, Rohde V, Thomé C
NERVENARZT. 2018;89(8):927.

Can untreated PKU patients escape from intellectual disability?: A systematic review
van Vliet D, van Wegberg A, Ahring K, Bik-Multanowski M, Blau N, Bulut F, Casas K, Didycz B, Djordjevic M, Federico A, Feillet F, Gizewska M, Gramer G, Hertecant J, Hollak C, Jørgensen J, Karall D, Landau Y, Leuzzi V, Mathisen P, Moseley K, Mungan N, Nardecchia F, Õunap K, Powell K, Ramachandran R, Rutsch F, Setoodeh A, Stojiljkovic M, Trefz F, Usurelu N, Wilson C, van Karnebeek C, Hanley W, van Spronsen F
ORPHANET J RARE DIS. 2018;13(1):149.

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome
Warejko J, Tan W, Daga A, Schapiro D, Lawson J, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar A, Schneider R, Gee H, Schmidt J, Vivante A, van der Ven A, Ityel H, Chen J, Sadowski C, Kohl S, Pabst W, Nakayama M, Somers M, Rodig N, Daouk G, Baum M, Stein D, Ferguson M, Traum A, Soliman N, Kari J, El Desoky S, Fathy H, Zenker M, Bakkaloglu S, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai M, Hashmi S, Hopcian J, Kopp J, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz R, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton R, Braun D, Hildebrandt F
CLIN J AM SOC NEPHRO. 2018;13(1):53-62.

Acute hepatitis as a prequel to very severe aplastic anemia
Weiler-Normann C, Hartl J, Weidemann S, von Pein U, Fiedler W, Schramm C, Brinkert F, Kröger N, Christopeit M
Z GASTROENTEROL. 2018;56(1):51-54.

Outcome of renal transplantation in small infants: a match-controlled analysis
Weitz M, Laube G, Schmidt M, Krupka K, Murer L, Müller D, Hoppe B, Büscher A, König J, Pohl M, Jungraithmayr T, Thiel F, Billing H, Grenda R, Rubik J, Kaabak M, Yalcinkaya F, Topaloglu R, Webb N, Dello Strologo L, Pape L, Nadalin S, Tönshoff B
PEDIATR NEPHROL. 2018;33(6):1057-1068.

CD32 Expression of Different Memory T Cell Subpopulations in the Blood and Lymph Nodal Tissue of HIV Patients and Healthy Controls Correlates With Immune Activation
Wittner M, Dunay G, Kummer S, Bockhorn M, Hüfner A, Schmiedel S, Degen O, van Lunzen J, Eberhard J, Schulze Zur Wiesch J
JAIDS-J ACQ IMM DEF. 2018;77(4):345-349.

Inborn errors of metabolism and the human interactome: a systems medicine approach
Woidy M, Muntau A, Gersting S
J INHERIT METAB DIS. 2018;41(3):285-296.

An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease
Wyrwich K, Schulz A, Nickel M, Slasor P, Ajayi T, Jacoby D, Kohlschütter A
J Inborn Err Metab Scr (JIEMS). 2018;6:1-7.

Recent advances of animal model of focal segmental glomerulosclerosis
Yang J, Dettmar A, Kronbichler A, Gee H, Saleem M, Kim S, Shin J
CLIN EXP NEPHROL. 2018;22(4):752-763.

Hypereosinophilic Syndrome After Liver Transplantation: A Case Report and a Review of the Literature
Aulbert W, Kobbe R, Breuer C, Briem-Richter A, Schäfer H, Brinkert F, Dettmar A, Kemper M, Grabhorn E
TRANSPLANTATION. 2017;101(5):e166-e169.

Complement Activation in Peritoneal Dialysis-Induced Arteriolopathy
Bartosova M, Schaefer B, Bermejo J, Tarantino S, Lasitschka F, Macher-Goeppinger S, Sinn P, Warady B, Zaloszyc A, Parapatics K, Májek P, Bennett K, Oh J, Aufricht C, Schaefer F, Kratochwill K, Schmitt C
J AM SOC NEPHROL. 2017.

Clinical and Laboratory Consequences of Platelet Transfusion in Shiga Toxin-Mediated Hemolytic Uremic Syndrome
Beneke J, Sartison A, Kielstein J, Haller H, Nitschke M, Kunzendorf U, Loos S, Kemper M, Stahl R, Menne J
TRANSFUS MED REV. 2017;31(1):51-55.

Effect of patent ductus arteriosus and patent foramen ovale on left ventricular stroke volume measurement by electrical velocimetry in comparison to transthoracic echocardiography in neonates
Blohm M, Hartwich J, Obrecht D, Kersten J, Singer D
J CLIN MONIT COMPUT. 2017;31(3):589-598.

The Natural History of Canavan Disease: Description of 23 New Cases and Comparison with Literature
Bohnenpoll J, Eichler F, Schoen G, Hischke S, Denecke J, Hempel M, Kohlschütter A, Bley A
NEUROPEDIATRICS. 2017;48(S 01):26.

Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells
Böhringer J, Santer R, Schumacher N, Gieseke F, Cornils K, Pechan M, Kustermann-Kuhn B, Handgretinger R, Schöls L, Harzer K, Krägeloh-Mann I, Müller I
HUM MUTAT. 2017;38(11):1511-1520.

Factors associated with cardiovascular target organ damage in children after renal transplantation
Borchert-Mörlins B, Thurn D, Schmidt B, Büscher A, Oh J, Kier T, Bauer E, Baig S, Kanzelmeyer N, Kemper M, Büscher R, Melk A
PEDIATR NEPHROL. 2017.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
Boy N, Mühlhausen C, Maier E, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg C, Harting I, Hoffmann G, Karall D, Koeller D, Krawinkel M, Okun J, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S
J INHERIT METAB DIS. 2017;40(1):75-101.

Lipid metabolism: from genetic loci to functional understanding
Buerger F, Burkhardt R
CURR OPIN LIPIDOL. 2017;28(1):81-82.

Depletion of Jmjd1c impairs adipogenesis in murine 3T3-L1 cells
Buerger F, Müller S, Ney N, Weiner J, Heiker J, Kallendrusch S, Kovacs P, Schleinitz D, Thiery J, Stadler S, Burkhardt R
BBA-MOL BASIS DIS. 2017;1863(7):1709-1717.

MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2
Coady M, El Tarazi A, Santer R, Bissonnette P, Sasseville L, Calado J, Lussier Y, Dumayne C, Bichet D, Lapointe J
J AM SOC NEPHROL. 2017;28(1):85-93.

Immunohistochemical and serological characterization of membranous nephropathy in children and adolescents
Dettmar A, Wiech T, Kemper M, Soave A, Rink M, Oh J, Stahl R, Hoxha E
PEDIATR NEPHROL. 2017;33(3):463-472.

Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants
Dröge C, Bonus M, Baumann U, Klindt C, Lainka E, Kathemann S, Brinkert F, Grabhorn E, Pfister E, Wenning D, Fichtner A, Gotthardt D, Weiss K, McKiernan P, Puri R, Verma I, Kluge S, Gohlke H, Schmitt L, Kubitz R, Häussinger D, Keitel V
J HEPATOL. 2017;67(6):1253-1264.

The mutation p.D313Y is associated with organ manifestation in Fabry disease
du Moulin M, Koehn A, Golsari A, Dulz S, Atiskova Y, Patten M, Münch J, Avanesov M, Ullrich K, Muschol N
CLIN GENET. 2017;92(5):528-533.

Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms
du Moulin M, Thies B, Blohm M, Oh J, Kemper M, Santer R, Mühlhausen C
JIMD reports. 2017.

Assessment of the HIV-1 reservoir in CD4+ regulatory T cells by a Droplet Digital PCR based approach
Dunay G, Solomatina A, Kummer S, Hüfner A, Bialek J, Eberhard J, Tolosa E, Hauber J, Wiesch J
VIRUS RES. 2017;240:107-111.

Lessons learned from additional research analyses of unsolved clinical exome cases
Eldomery M, Coban-Akdemir Z, Harel T, Rosenfeld J, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani S, Schaaf C, Wangler M, Bacino C, Lewis R, Potocki L, Graham B, Belmont J, Scaglia F, Orange J, Jhangiani S, Chiang T, Doddapaneni H, Hu J, Muzny D, Xia F, Beaudet A, Boerwinkle E, Eng C, Plon S, Sutton V, Gibbs R, Posey J, Yang Y, Lupski J
GENOME MED. 2017;9(1):26.

TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer
Fagerholm R, Khan S, Schmidt M, García-Closas M, Heikkilä P, Saarela J, Beesley J, Jamshidi M, Aittomäki K, Liu J, Ali H, Andrulis I, Beckmann M, Behrens S, Blows F, Brenner H, Chang-Claude J, Couch F, Czene K, Fasching P, Figueroa J, Floris G, Glendon G, Guo Q, Hall P, Hallberg E, Hamann U, Holleczek B, Hooning M, Hopper J, Jager A, Kabisch M, Keeman R, Kosma V, Lambrechts D, Lindblom A, Mannermaa A, Margolin S, Provenzano E, Shah M, Southey M, Dennis J, Lush M, Michailidou K, Wang Q, Bolla M, Dunning A, Easton D, Pharoah P, Chenevix-Trench G, Blomqvist C, Nevanlinna H
ONCOTARGET. 2017;8(11):18381-18398.

Early-life exposure to caffeine affects the construction and activity of cortical networks in mice
Fazeli W, Zappettini S, Marguet S, Grendel J, Esclapez M, Bernard C, Isbrandt D
EXP NEUROL. 2017;295:88-103.

Physical and Psychological Well-Being in Overweight Children Participating in a Long-Term Intervention Based on Judo Practice
Geertz W, Dechow A, Pohl E, Zyriax B, Ganschow R, Schulz K
Advances in Physical Education. 2017;7:85-100.

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
Glasgow R, Thompson K, Barbosa I, He L, Alston C, Deshpande C, Simpson M, Morris A, Neu A, Löbel U, Hall J, Prokisch H, Haack T, Hempel M, McFarland R, Taylor R
NEUROGENETICS. 2017;18(4):227-235.

Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy
Godel T, Bäumer P, Pham M, Köhn A, Muschol N, Kronlage M, Kollmer J, Heiland S, Bendszus M, Mautner V
NEUROLOGY. 2017;89(12):1274-1282.

Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany
Gramer G, Abdoh G, Ben-Omran T, Shahbeck N, Ali R, Mahmoud L, Fang-Hoffmann J, Hoffmann G, Al Rifai H, Okun J
WORLD J PEDIATR. 2017;13(2):136-143.

Optic Disc Drusen and Family History of Glaucoma-Results of a Patient-directed Survey
Gramer G, Gramer E, Weisschuh N
J GLAUCOMA. 2017;26(10):940-946.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients
Grünert S, Schlatter S, Schmitt R, Gemperle-Britschgi C, Mrázová L, Balcı M, Bischof F, Çoker M, Das A, Demirkol M, de Vries M, Gökçay G, Häberle J, Uçar S, Lotz-Havla A, Lücke T, Roland D, Rutsch F, Santer R, Schlune A, Staufner C, Schwab K, Mitchell G, Sass J
MOL GENET METAB. 2017;121(3):206-215.

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study
Harmatz P, Mengel E, Geberhiwot T, Muschol N, Hendriksz C, Burton B, Jameson E, Berger K, Jester A, Treadwell M, Sisic Z, Decker C
AM J MED GENET A. 2017;173(2):375-383.

Application of ICP-MS and HPLC-ICP-MS for diagnosis and therapy of a severe intoxication with hexavalent chromium and inorganic arsenic
Heitland P, Blohm M, Breuer C, Brinkert F, Achilles E, Pukite I, Köster H
J TRACE ELEM MED BIO. 2017;41:36-40.

Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies
Hempel M, Casar Tena T, Diehl T, Burczyk M, Strom T, Kubisch C, Philipp M, Lessel D
HUM GENET. 2017;136(3):339-346.

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study
Hempel M, Kremer L, Tsiakas K, Alhaddad B, Haack T, Löbel U, Feichtinger R, Sperl W, Prokisch H, Mayr J, Santer R
MITOCHONDRION. 2017.

The first case of domino-split-liver transplantation in maple syrup urine disease
Herden U, Li J, Fischer L, Brinkert F, Blohm M, Santer R, Nashan B, Grabhorn E
PEDIATR TRANSPLANT. 2017;21(6):.

Functional assessment of the kidneys in a 10 month-old child with renal artery stenosis by intravoxel incoherent motion
Herrmann J, Ittrich H, Kaul M, Groth M, Tozakidou M, Blohm M, Oh J, Adam G
NEPHROLOGY. 2017;22(3):257-260.

Liver transplantation as a potentially lifesaving measure in neuroblastoma stage 4S
Holsten T, Schuster T, Grabhorn E, Hero B, Frühwald M
PEDIATR HEMAT ONCOL. 2017;34(1):17-23.

The HER2 phenotype of circulating tumor cells in HER2-positive early breast cancer: A translational research project of a prospective randomized phase III trial
Jaeger B, Neugebauer J, Andergassen U, Melcher C, Schochter F, Mouarrawy D, Ziemendorff G, Clemens M, V Abel E, Heinrich G, Schueller K, Schneeweiss A, Fasching P, Beckmann M, Scholz C, Friedl T, Friese K, Pantel K, Fehm T, Janni W, Rack B
PLOS ONE. 2017;12(6):e0173593.

Medizinische Versorgung von Flüchtlingen. Chancen und Herausforderungen in Hamburg – ein Praxisbericht
Jakubowski E, Rau C, Quellhorst S, Sothmann P, Plenge-Bönig A, Niessen J
GESUNDHEITSWESEN. 2017;79(8-09):599-604.

Exome Sequencing is a Valuable Approach in Critically Ill Patients with Suspected Monogenic Disease: Diagnosis of X-linked Centronuclear Myopathy in Preterm Twins
Johannsen J, Hempel M, Diehl T, Haack T, Denecke J
PEDIATR NEONATOL. 2017;58(5):458-459.

Hepatic shear wave elastography in children under free-breathing and breath-hold conditions
Jung C, Groth M, Petersen K, Hammel A, Brinkert F, Grabhorn E, Weidemann S, Busch J, Adam G, Herrmann J
EUR RADIOL. 2017;27(12):5337-5343.

Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci
Kar S, Adler E, Tyrer J, Hazelett D, Anton-Culver H, Bandera E, Beckmann M, Berchuck A, Bogdanova N, Brinton L, Butzow R, Campbell I, Carty K, Chang-Claude J, Cook L, Cramer D, Cunningham J, Dansonka-Mieszkowska A, Doherty J, Dörk T, Dürst M, Eccles D, Fasching P, Flanagan J, Gentry-Maharaj A, Glasspool R, Goode E, Goodman M, Gronwald J, Heitz F, T Hildebrandt M, Høgdall E, Høgdall C, Huntsman D, Jensen A, Karlan B, Kelemen L, Kiemeney L, Kjaer S, Kupryjanczyk J, Lambrechts D, Levine D, Li Q, Lissowska J, Lu K, Lubiński J, Massuger L, McGuire V, McNeish I, Menon U, Modugno F, Monteiro A, Moysich K, Ness R, Nevanlinna H, Paul J, Pearce C, Pejovic T, Permuth J, Phelan C, Pike M, Poole E, Ramus S, Risch H, Rossing M, Salvesen H, Schildkraut J, Sellers T, Sherman M, Siddiqui N, Sieh W, Song H, Southey M, Terry K, Tworoger S, Walsh C, Wentzensen N, Whittemore A, Wu A, Yang H, Zheng W, Ziogas A, Freedman M, Gayther S, Pharoah P, Lawrenson K
BRIT J CANCER. 2017;116(4):524-535.

Akutes Nierenversagen bei Urachuszyste?
Klaassen I, Wolf M, Kemper M, Riechardt S, Boettcher M, Herrmann J, Singer D
Z GEBURTSH NEONATOL. 2017;221(2):88-91.

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome
Klemann C, Esquivel M, Magerus-Chatinet A, Lorenz M, Fuchs I, Neveux N, Castelle M, Rohr J, Bettoni da Cunha C, Ebinger M, Kobbe R, Kremens B, Kollert F, Gambineri E, Lehmberg K, Seidel M, Siepermann K, Voelker T, Schuster V, Goldacker S, Schwarz K, Speckmann C, Picard C, Fischer A, Rieux-Laucat F, Ehl S, Rensing-Ehl A, Neven B
HAEMATOLOGICA. 2017;102(2):e52-e56.

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features
Kloth K, Denecke J, Hempel M, Johannsen J, Strom T, Kubisch C, Lessel D
EUR J MED GENET. 2017;60(9):494-498.

Case report - atypical hemolytic uremic syndrome triggered by influenza B
Kobbe R, Schild R, Christner M, Oh J, Loos S, Kemper M
BMC NEPHROL. 2017;18(1):96.

Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies
König J, Kranz B, König S, Schlingmann K, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M
CLIN J AM SOC NEPHRO. 2017;12(12):1974-1983.

Recent Progress in Deciphering the Etiopathogenesis of Primary Membranous Nephropathy
Kronbichler A, Oh J, Meijers B, Mayer G, Shin J
BIOMED RES INT . 2017;2017:1936372.

Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS)
Kuemmerle-Deschner J, Ozen S, Tyrrell P, Kone-Paut I, Goldbach-Mansky R, Lachmann H, Blank N, Hoffman H, Weissbarth-Riedel E, Hugle B, Kallinich T, Gattorno M, Gul A, Ter Haar N, Oswald M, Dedeoglu F, Cantarini L, Benseler S
ANN RHEUM DIS. 2017;76(6):942-947.

Inherited Thrombotic Thrombocytopenic Purpura (Upshaw Schulman Syndrome) as Differential Diagnosis to Neonatal Septicaemia with Disseminated Intravascular Coagulation - a Case Series
Lehmberg K, Hassenpflug W, Klaassen I, Hillebrand G, Oyen F, Budde U, Singer D, Schneppenheim R
Z GEBURTSH NEONATOL. 2017;221(1):39-42.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
Lessel D, Schob C, Küry S, Reinders M, Harel T, Eldomery M, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann A, Gerkes E, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom T, Rosenfeld J, Yang Y, Posey J, Immken L, Oundjian N, Helbig K, Meeks N, Zegar K, Morton J, , Schieving J, Claasen A, Huentelman M, Narayanan V, Ramsey K, Brunner H, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski J, Kreienkamp H
AM J HUM GENET. 2017;101(5):716-724.

Intermediate Follow-up of Pediatric Patients With Hemolytic Uremic Syndrome During the 2011 Outbreak Caused by E. coli O104:H4
Loos S, Aulbert W, Hoppe B, Ahlenstiel-Grunow T, Kranz B, Wahl C, Staude H, Humberg A, Benz K, Krause M, Pohl M, Liebau M, Schild R, Lemke J, Beringer O, Müller D, Härtel C, Wigger M, Vester U, Konrad M, Haffner D, Pape L, Oh J, Kemper M
CLIN INFECT DIS. 2017;64(12):1637-1643.

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
Maas R, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain M, Al-Zaidan H, Balasubramaniam S, Barić I, Bubshait D, Burlina A, Christodoulou J, Chung W, Colombo R, Darin N, Freisinger P, Garcia Silva M, Grunewald S, Haack T, van Hasselt P, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr J, McClean P, De Meirleir L, Naess K, Ngu L, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor R, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers R, de Brouwer A, Wortmann S
ANN NEUROL. 2017;82(6):1004-1015.

Quantitative Proteome Analysis of Mouse Liver Lysosomes Provides Evidence for Mannose 6-phosphate-independent Targeting Mechanisms of Acid Hydrolases in Mucolipidosis II
Markmann S, Krambeck S, Hughes C, Mirzaian M, Aerts J, Saftig P, Schweizer M, Vissers J, Braulke T, Damme M
MOL CELL PROTEOMICS. 2017;16(3):438-450.

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities
Martin S, Chamberlin A, Shinde D, Hempel M, Strom T, Schreiber A, Johannsen J, Ousager L, Larsen M, Hansen L, Fatemi A, Cohen J, Lemke J, Sørensen K, Helbig K, Lessel D, Abou Jamra R
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History of Comorbidities and Survival of Ovarian Cancer Patients, Results from the Ovarian Cancer Association Consortium
Minlikeeva A, Freudenheim J, Eng K, Cannioto R, Friel G, Szender J, Segal B, Odunsi K, Mayor P, Diergaarde B, Zsiros E, Kelemen L, Köbel M, Steed H, deFazio A, Jordan S, Fasching P, Beckmann M, Risch H, Rossing M, Doherty J, Chang-Claude J, Goodman M, Dörk T, Edwards R, Modugno F, Ness R, Matsuo K, Mizuno M, Karlan B, Goode E, Kjær S, Høgdall E, Schildkraut J, Terry K, Cramer D, Bandera E, Paddock L, Kiemeney L, Massuger L, Sutphen R, Anton-Culver H, Ziogas A, Menon U, Gayther S, Ramus S, Gentry-Maharaj A, Pearce C, Wu A, Kupryjanczyk J, Jensen A, Webb P, Moysich K
CANCER EPIDEM BIOMAR. 2017;26(9):1470-1473.

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1
Miyake N, Wolf N, Cayami F, Crawford J, Bley A, Bulas D, Conant A, Bent S, Gripp K, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie B, Lal D, Micha D, Pizzino A, Sinke R, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft R, Ogata T, Ozono K, Matsumoto N, Neubauer B, Simons C, Vanderver A
NEUROGENETICS. 2017;18(4):185-194.

Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders
Monostori P, Klinke G, Richter S, Baráth Á, Fingerhut R, Baumgartner M, Kölker S, Hoffmann G, Gramer G, Okun J
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Psychosozialer Unterstützungsbedarf von Eltern mit schwer chronisch somatisch erkrankten Kindern
Morgenstern L, Wagner M, Denecke J, Grolle B, Johannsen J, Wegscheider K, Wiegand-Grefe S
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Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial
Muntau A, Burlina A, Eyskens F, Freisinger P, De Laet C, Leuzzi V, Rutsch F, Sivri H, Vijay S, Bal M, Gramer G, Pazdírková R, Cleary M, Lotz-Havla A, Munafo A, Mould D, Moreau-Stucker F, Rogoff D
ORPHANET J RARE DIS. 2017;12(1):47.

Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy
Okun J, Gan-Schreier H, Ben-Omran T, Schmidt K, Fang-Hoffmann J, Gramer G, Abdoh G, Shahbeck N, Al Rifai H, Al Khal A, Haege G, Chiang C, Kasper D, Wilcken B, Burgard P, Hoffmann G
JIMD reports. 2017;32:87-94.

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
Oud M, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen M, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale C, Wanders R, Pals S, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams H, Beales P, Roepman R, Dias P, Brunner H, Cobben J, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies E, de Sousa S, Lessel D, Arts H, Kuijpers T
AM J HUM GENET. 2017;100(2):281-296.

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy
Park J, Hogrebe M, Fobker M, Brackmann R, Fiedler B, Reunert J, Rust S, Tsiakas K, Santer R, Grüneberg M, Marquardt T
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Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea
Petersen B, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro A, Dara N, Dückers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker E, Goldacker S, Hammermann J, Hasselblatt P, Havlicekova Z, Hübscher K, Jesenak M, Karaca N, Karakoc-Aydiner E, Kharaghani M, Kilic S, Kiykim A, Klein C, Klemann C, Kobbe R, Kotlarz D, Laass M, Leahy T, Mesdaghi M, Mitton S, Neves J, Öztürk B, Pereira L, Rohr J, Restrepo J, Ruzaike G, Saleh N, Seneviratne S, Senol E, Speckmann C, Tegtmeyer D, Thankam P, van der Werff Ten Bosch J, von Bernuth H, Zeissig S, Zeissig Y, Franke A, Grimbacher B
INFLAMM BOWEL DIS. 2017;23(12):2109-2120.

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
Pop A, Williams M, Struys E, Monné M, Jansen E, De Grassi A, Kanhai W, Scarcia P, Ojeda M, Porcelli V, van Dooren S, Lennertz P, Nota B, Abdenur J, Coman D, Das A, El-Gharbawy A, Nuoffer J, Polic B, Santer R, Weinhold N, Zuccarelli B, Palmieri F, Palmieri L, Salomons G
J INHERIT METAB DIS. 2017.

Transition structures and timing of transfer from paediatric to adult-based care after kidney transplantation in Germany: a qualitative study: a qualitative study
Prüfe J, Dierks M, Bethe D, Oldhafer M, Müther S, Thumfart J, Feldkötter M, Büscher A, Sauerstein K, Hansen M, Pohl M, Drube J, Thiel F, Rieger S, John U, Taylan C, Dittrich K, Hollenbach S, Klaus G, Fehrenbach H, Kranz B, Montoya C, Lange-Sperandio B, Ruckenbrod B, Billing H, Staude H, Brunkhorst R, Rusai K, Pape L, Kreuzer M
BMJ OPEN. 2017;7(6):e015593.

Frühe beidseitige Nephrektomie bei Säuglingen mit pränataler ARPKD: Prognoseverbesserung oder unnötiger Aufwand?
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Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy
Rolvien T, Butscheidt S, Jeschke A, Neu A, Denecke J, Kubisch C, Meisler M, Püschel K, Barvencik F, Yorgan T, Oheim R, Schinke T, Amling M
BONE. 2017;103:136-143.

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1
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MOL GENET METAB. 2017;122S:25-34.

Association of Serum Soluble Urokinase Receptor Levels With Progression of Kidney Disease in Children
Schaefer F, Trachtman H, Wühl E, Kirchner M, Hayek S, Anarat A, Duzova A, Mir S, Paripovic D, Yilmaz A, Lugani F, Arbeiter K, Litwin M, Oh J, Matteucci M, Gellermann J, Wygoda S, Jankauskiene A, Klaus G, Dusek J, Testa S, Zurowska A, Caldas Afonso A, Tracy M, Wei C, Sever S, Smoyer W, Reiser J
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Health-related quality of life after combined liver and kidney transplantation in children
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Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation, and mitochondria architecture
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Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)
Schubert D, Klein M, Hassdenteufel S, Caballero-Oteyza A, Yang L, Proietti M, Bulashevska A, Kemming J, Kühn J, Winzer S, Rusch S, Fliegauf M, Schäffer A, Pfeffer S, Geiger R, Cavalié A, Cao H, Yang F, Li Y, Rizzi M, Eibel H, Kobbe R, Marks A, Peppers B, Hostoffer R, Puck J, Zimmermann R, Grimbacher B
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Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5
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Elektrounfälle im Kindes- und Jugendalter
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Physiologie der Atmung im Kindesalter.
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GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms
Sperb-Ludwig F, Acosta A, Ribeiro E, Kim C, Gandelman Horovitz D, Boy R, Rodovalho-Doriqui M, Lourenço L, Santos E, Braulke T, Pohl S, Schwartz I
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No evidence that genetic variation in the myeloid-derived suppressor cell pathway influences ovarian cancer survival
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A first-in-human clinical study of a new SP-B and SP-C enriched synthetic surfactant (CHF5633) in preterm babies with respiratory distress syndrome
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Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
Syrbe S, Harms F, Parrini E, Montomoli M, Mütze U, Helbig K, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne H, Hoffmann G, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke G, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek N, Møller R, Koeleman B, Matsumoto N, Dobyns W, Battaglia D, Lemke J, Kutsche K, Guerrini R
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Inflammatory bowel disease caused by primary immunodeficiencies-Clinical presentations, review of literature, and proposal of a rational diagnostic algorithm
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Issues with European guidelines for phenylketonuria - Authors' reply
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van Wegberg A, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch A, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts S, Kearney S, Leuzzi V, Maillot F, Muntau A, van Rijn M, Trefz F, Walter J, van Spronsen F
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Site-1 protease and lysosomal homeostasis
Velho R, De Pace R, Klünder S, Di Lorenzo G, Schweizer M, Braulke T, Pohl S
BBA-MOL CELL RES. 2017;1864(11 Pt B):2162-2168.

Are All Amplitude-Integrated Electroencephalogram Systems Equal?
Werther T, Olischar M, Naulaers G, Deindl P, Klebermass-Schrehof K, Stevenson N
NEONATOLOGY. 2017;112(4):394-401.

Management Strategies for CLN2 Disease
Williams R, Adams H, Blohm M, Cohen-Pfeffer J, de Los Reyes E, Denecke J, Drago K, Fairhurst C, Frazier M, Guelbert N, Kiss S, Kofler A, Lawson J, Lehwald L, Leung M, Mikhaylova S, Mink J, Nickel M, Shediac R, Sims K, Specchio N, Topcu M, von Löbbecke I, West A, Zernikow B, Schulz A
PEDIATR NEUROL. 2017;69:102-112.

Urinöser Aszites bei Sinus-urogenitalis-Fehlbildung.
Wolf M, Bergholz R, Diehl T, Thayssen M, Diemert A, Reinshagen K, Singer D
Z GEBURTSH NEONATOL. 2017;221(04):198-200.

Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism
Zeltner N, Baumgartner M, Bondarenko A, Ensenauer R, Karall D, Kölker S, Mühlhausen C, Scholl-Bürgi S, Thimm E, Quitmann J, Burgard P, Landolt M, Huemer M
JIMD reports. 2017.

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents
Zeltner N, Landolt M, Baumgartner M, Lageder S, Quitmann J, Sommer R, Karall D, Mühlhausen C, Schlune A, Scholl-Bürgi S, Huemer M
JIMD reports. 2017;31:1-9.

TMEM165 Deficiency: Postnatal Changes in Glycosylation
Althoff S, Grüneberg M, Reunert J, Park J, Rust S, Mühlhausen C, Wada Y, Santer R, Marquardt T
2016. JIMD Reports. 1. Aufl. Springer, 21-29.

Severe antenatally diagnosed renal disorders: background, prognosis and practical approach
Aulbert W, Kemper M
PEDIATR NEPHROL. 2016;31(4):563-74.

S-Adenosylhomocysteine alters methylation of cellular RNA
Barroso M
J INHERIT METAB DIS. 2016;39(S1):.

S-adenosylhomocysteine induces inflammation through NFkB: A possible role for EZH2 in endothelial cell activation
Barroso M, Kao D, Blom H, Tavares de Almeida I, Castro R, Loscalzo J, Handy D
Biochim Biophys Acta. 2016;1862(1):82-92.

Nerve ultrasound in clinical management of carpal tunnel syndrome in mucopolysaccharidosis
Bäumer T, Bühring N, Schelle T, Münchau A, Muschol N
DEV MED CHILD NEUROL. 2016;58(11):1172-1179.

Single-chain antibody-fragment M6P-1 possesses a mannose 6-phosphate monosaccharide-specific binding pocket that distinguishes N-glycan phosphorylation in a branch-specific manner
Blackler R, Evans D, Smith D, Cummings R, Brooks C, Braulke T, Liu X, Evans S, Müller-Loennies S
GLYCOBIOLOGY. 2016;26(2):181-192.

Cardiovascular biomarkers in paired maternal and umbilical cord blood samples at term and near term delivery
Blohm M, Arndt F, Sandig J, Diehl W, Zeller T, Mueller G, Schlesner C, Mir T, Blankenberg S, Hecher K, Singer D, Weil J
EARLY HUM DEV. 2016;94:7-12.

Unterarmgangrän bei "normaler" Gerinnung.
Blohm M, Lehmberg K, Schrum J, Helmke K, Ridderbusch I, Schneppenheim R, Singer D
Z GEBURTSH NEONATOL. 2016;220:133-134.

Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7
Brandenstein L, Schweizer M, Sedlacik J, Fiehler J, Storch S
HUM MOL GENET. 2016;25(4):777-91.

Two Cases of Hepatosplenic T-Cell Lymphoma in Adolescents Treated for Autoimmune Hepatitis
Brinkert F, Arrenberg P, Krech T, Grabhorn E, Lohse A, Schramm C
PEDIATRICS. 2016;138(3):e20154245.

The implementation of systematic pain and sedation management has no impact on outcome in extremely preterm infants
Deindl P, Giordano V, Fuiko R, Waldhoer T, Unterasinger L, Berger A, Olischar M
ACTA PAEDIATR. 2016;105(7):798-805.

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
Depner M, Fuchs S, Raabe J, Frede N, Glocker C, Doffinger R, Gkrania-Klotsas E, Kumararatne D, Atkinson T, Schroeder H, Niehues T, Dückers G, Stray-Pedersen A, Baumann U, Schmidt R, Franco J, Orrego J, Ben-Shoshan M, McCusker C, Jacob C, Carneiro-Sampaio M, Devlin L, Edgar J, Henderson P, Russell R, Skytte A, Seneviratne S, Wanders J, Stauss H, Meyts I, Moens L, Jesenak M, Kobbe R, Borte S, Borte M, Wright D, Hagin D, Torgerson T, Grimbacher B
J CLIN IMMUNOL. 2016;36(1):73-84.

Infection-Related Focal Segmental Glomerulosclerosis in Children
Dettmar A, Oh J
BIOMED RES INT . 2016;2016:7351964.

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis
Diez-Fernandez C, Rüfenacht V, Santra S, Lund A, Santer R, Lindner M, Tangeraas T, Unsinn C, de Lonlay P, Burlina A, van Karnebeek C, Häberle J
GENET MED. 2016;18(10):991-1000.

Novel morphological macular findings in juvenile CLN3 disease
Dulz S, Wagenfeld L, Nickel M, Richard G, Schwartz R, Bartsch U, Kohlschütter A, Schulz A
BRIT J OPHTHALMOL. 2016;100(6):824-8.

Metachromatic Leukodystrophy: An Assessment of Disease Burden
Eichler F, Cox T, Crombez E, Dali C, Kohlschütter A
J CHILD NEUROL. 2016;31(13):1457-1463.

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis
Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper J, Dvořáková L, Giugliani R, Izzo E, Jahnová H, Lukacs Z, Mole S, Noher de Halac I, Pearce D, Poupetova H, Schulz A, Specchio N, Xin W, Miller N
MOL GENET METAB. 2016;119(1-2):160-7.

Homooligomerization of ABCA3 and its functional significance
Frixel S, Lotz-Havla A, Kern S, Kaltenborn E, Wittmann T, Gersting S, Muntau A, Zarbock R, Griese M
INT J MOL MED. 2016;38(2):558-66.

Sternumaplasie (Sternal Cleft).
Gerling J, Boettcher M, Mietzsch S, Pawlik M, Klaassen I, Hempel M, Reinshagen K, Singer D
Z GEBURTSH NEONATOL. 2016;220:269-270.

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation
Ghoussaini M, French J, Michailidou K, Nord S, Beesley J, Canisus S, Hillman K, Kaufmann S, Sivakumaran H, Moradi Marjaneh M, Lee J, Dennis J, Bolla M, Wang Q, Dicks E, Milne R, Hopper J, Southey M, Schmidt M, Broeks A, Muir K, Lophatananon A, Fasching P, Fletcher O, Johnson N, Sawyer E, Tomlinson I, Burwinkel B, Marme F, Guénel P, Truong T, Bojesen S, Flyger H, Benitez J, González-Neira A, Alonso M, Pita G, Neuhausen S, Anton-Culver H, Brenner H, Arndt V, Meindl A, Schmutzler R, Brauch H, Hamann U, Tessier D, Vincent D, Nevanlinna H, Khan S, Matsuo K, Ito H, Dörk T, Bogdanova N, Lindblom A, Margolin S, Mannermaa A, Kosma V, Wu A, van den Berg D, Lambrechts D, Floris G, Chang-Claude J, Rudolph A, Radice P, Barile M, Couch F, Hallberg E, Giles G, Haiman C, Le Marchand L, Goldberg M, Teo S, Yip C, Borresen-Dale A, Zheng W, Cai Q, Winqvist R, Pylkäs K, Andrulis I, Devilee P, Tollenaar R, García-Closas M, Figueroa J, Hall P, Czene K, Brand J, Darabi H, Eriksson M, Hooning M, Koppert L, Li J, Shu X, Zheng Y, Cox A, Cross S, Shah M, Rhenius V, Choi J, Kang D, Hartman M, Chia K, Kabisch M, Torres D, Luccarini C, Conroy D, Jakubowska A, Lubinski J, Sangrajrang S, Brennan P, Olswold C, Slager S, Shen C, Hou M, Swerdlow A, Schoemaker M, Simard J, Pharoah P, Kristensen V, Chenevix-Trench G, Easton D, Dunning A, Edwards S
AM J HUM GENET. 2016;99(4):903-911.

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results: survey results
Giżewska M, MacDonald A, Bélanger-Quintana A, Burlina A, Cleary M, Coşkun T, Feillet F, Muntau A, Trefz F, van Spronsen F, Blau N
EUR J PEDIATR. 2016;175(2):261-72.

Secretory Activity of Neutrophils Correlates With Genotype in Familial Mediterranean Fever
Gohar F, Orak B, Kallinich T, Jeske M, Lieber M, von Bernuth H, Giese A, Weissbarth-Riedel E, Haas J, Dressler F, Holzinger D, Lohse P, Neudorf U, Lainka E, Hinze C, Masjosthusmann K, Kessel C, Weinhage T, Foell D, Wittkowski H
ARTHRITIS RHEUMATOL. 2016;68(12):3010-3022.

Long-chain polyunsaturated fatty acid status in children, adolescents and adults with phenylketonuria
Gramer G, Haege G, Langhans C, Schuhmann V, Burgard P, Hoffmann G
PROSTAG LEUKOTR ESS. 2016;109:52-7.

Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients
Groeschel S, Kühl J, Bley A, Kehrer C, Weschke B, Döring M, Böhringer J, Schrum J, Santer R, Kohlschütter A, Krägeloh-Mann I, Müller I
JAMA NEUROL. 2016;73(9):1133-40.

Neurological sequelae of healthcare-associated sepsis in very-low-birthweight infants: Umbrella review and evidence-based outcome tree
Haller S, Deindl P, Cassini A, Suetens C, Zingg W, Abu Sin M, Velasco E, Weiss B, Ducomble T, Sixtensson M, Eckmanns T, Harder T
EUROSURVEILLANCE. 2016;21(8):11-20.

Neurological sequelae of sepsis in very low birth weight infants: Umbrella review and evidence-based outcome tree Eurosurveillance
Haller S, Deindl P, Cassini A, Suetens C, Zingg W, Abu Sin M, Velasco E, Weiß B, Ducomble T, Sixtensson M, Eckmanns T, Harder T
EUROSURVEILLANCE. 2016;21(8):..

Computerized patient identification for the EMBRACA clinical trial using real-time data from the PRAEGNANT network for metastatic breast cancer patients
Hein A, Gass P, Walter C, Taran F, Hartkopf A, Overkamp F, Kolberg H, Hadji P, Tesch H, Ettl J, Wuerstlein R, Lounsbury D, Lux M, Lüftner D, Wallwiener M, Müller V, Belleville E, Janni W, Fehm T, Wallwiener D, Ganslandt T, Ruebner M, Beckmann M, Schneeweiss A, Fasching P, Brucker S
BREAST CANCER RES TR. 2016;158(1):59-65.

Impact of age at onset and newborn screening on outcome in organic acidurias
Heringer J, Valayannopoulos V, Lund A, Wijburg F, Freisinger P, Barić I, Baumgartner M, Burgard P, Burlina A, Chapman K, I Saladelafont E, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter J, Zeman J, Chabrol B, Kölker S
J INHERIT METAB DIS. 2016;39(3):341-353.

Notfallmedizinische Forschungsergebnisse 2015/2016 für die Praxis: Teil 1: Herz-Kreislauf-Stillstand, kardiopulmonale Reanimation und Myokardinfarkt.
Hinkelbein J, Braunecker S, Neuhaus C, Drinhaus H, Bernhard M, Struck M, Bieler D, Trentzsch H, Thiele H, Singer D, Böttiger B
Notfallmedizin up2date. 2016;11(04):385-404.

Notfallmedizinische Forschungsergebnisse 2015/2016 für die Praxis: Teil 2: Neurologische Notfälle, Atemwegsmanagement, Trauma, pädiatrische Notfälle.
Hinkelbein J, Braunecker S, Neuhaus C, Drinhaus H, Bernhard M, Struck M, Bieler D, Trentzsch H, Thiele H, Singer D, Böttiger B
Notfallmedizin up2date. 2016;11(04):405-424.

Impact of Everolimus and Low-Dose Cyclosporin on Cytomegalovirus Replication and Disease in Pediatric Renal Transplantation
Höcker B, Zencke S, Pape L, Krupka K, Köster L, Fichtner A, Dello Strologo L, Guzzo I, Topaloglu R, Kranz B, König J, Bald M, Webb N, Noyan A, Dursun H, Marks S, Ozcakar Z, Thiel F, Billing H, Pohl M, Fehrenbach H, Schnitzler P, Bruckner T, Ahlenstiel-Grunow T, Tönshoff B
AM J TRANSPLANT. 2016;16(3):921-9.

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
Jamiolkowski D, Kölker S, Glahn E, Barić I, Zeman J, Baumgartner M, Mühlhausen C, Garcia-Cazorla A, Gleich F, Haege G, Burgard P
J INHERIT METAB DIS. 2016;39(2):231-241.

Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7
Jankowiak W, Brandenstein L, Dulz S, Hagel C, Storch S, Bartsch U
INVEST OPHTH VIS SCI. 2016;57(11):4989-4998.

Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease
Johannsen J, Nickel M, Schulz A, Denecke J
NEUROPEDIATRICS. 2016;47(3):194-6.

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types
Kar S, Beesley J, Amin Al Olama A, Michailidou K, Tyrer J, Kote-Jarai Z, Lawrenson K, Lindstrom S, Ramus S, Thompson D, Kibel A, Dansonka-Mieszkowska A, Michael A, Dieffenbach A, Gentry-Maharaj A, Whittemore A, Wolk A, Monteiro A, Peixoto A, Kierzek A, Cox A, Rudolph A, Gonzalez-Neira A, Wu A, Lindblom A, Swerdlow A, Ziogas A, Ekici A, Burwinkel B, Karlan B, Nordestgaard B, Blomqvist C, Phelan C, McLean C, Pearce C, Vachon C, Cybulski C, Slavov C, Stegmaier C, Maier C, Ambrosone C, Høgdall C, Teerlink C, Kang D, Tessier D, Schaid D, Stram D, Cramer D, Neal D, Eccles D, Flesch-Janys D, Edwards D, Wokozorczyk D, Levine D, Yannoukakos D, Sawyer E, Bandera E, Poole E, Goode E, Khusnutdinova E, Høgdall E, Song F, Bruinsma F, Heitz F, Modugno F, Hamdy F, Wiklund F, Giles G, Olsson H, Wildiers H, Ulmer H, Pandha H, Risch H, Darabi H, Salvesen H, Nevanlinna H, Gronberg H, Brenner H, Brauch H, Anton-Culver H, Song H, Lim H, McNeish I, Campbell I, Vergote I, Gronwald J, Lubiński J, Stanford J, Benítez J, Doherty J, Permuth J, Chang-Claude J, Donovan J, Dennis J, Schildkraut J, Schleutker J, Hopper J, Kupryjanczyk J, Park J, Figueroa J, Clements J, Knight J, Peto J, Cunningham J, Pow-Sang J, Batra J, Czene K, Lu K, Herkommer K, Khaw K, Matsuo K, Muir K, Offitt K, Chen K, Moysich K, Aittomäki K, Odunsi K, Kiemeney L, Massuger L, Fitzgerald L, Cook L, Cannon-Albright L, Hooning M, Pike M, Bolla M, Luedeke M, Teixeira M, Goodman M, Schmidt M, Riggan M, Aly M, Rossing M, Beckmann M, Moisse M, Sanderson M, Southey M, Jones M, Lush M, Hildebrandt M, Hou M, Schoemaker M, Garcia-Closas M, Bogdanova N, Rahman N, Le N, Orr N, Wentzensen N, Pashayan N, Peterlongo P, Guénel P, Brennan P, Paulo P, Webb P, Broberg P, Fasching P, Devilee P, Wang Q, Cai Q, Li Q, Kaneva R, Butzow R, Kopperud R, Schmutzler R, Stephenson R, MacInnis R, Hoover R, Winqvist R, Ness R, Milne R, Travis R, Benlloch S, Olson S, McDonnell S, Tworoger S, Maia S, Berndt S, Lee S, Teo S, Thibodeau S, Bojesen S, Gapstur S, Kjær S, Pejovic T, Tammela T, Dörk T, Brüning T, Wahlfors T, Key T, Edwards T, Menon U, Hamann U, Mitev V, Kosma V, Setiawan V, Kristensen V, Arndt V, Vogel W, Zheng W, Sieh W, Blot W, Kluzniak W, Shu X, Gao Y, Schumacher F, Freedman M, Berchuck A, Dunning A, Simard J, Haiman C, Spurdle A, Sellers T, Hunter D, Henderson B, Kraft P, Chanock S, Couch F, Hall P, Gayther S, Easton D, Chenevix-Trench G, Eeles R, Pharoah P, Lambrechts D
CANCER DISCOV. 2016;6(9):1052-67.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
Kim J, Shinde D, Reijnders M, Hauser N, Belmonte R, Wilson G, Bosch D, Bubulya P, Shashi V, Petrovski S, Stone J, Park E, Veltman J, Sinnema M, Stumpel C, Draaisma J, Nicolai J, Yntema H, Lindstrom K, de Vries B, Jewett T, Santoro S, Vogt J, Bachman K, Seeley A, Krokosky A, Turner C, Rohena L, Hempel M, Kortüm F, Lessel D, Neu A, Strom T, Wieczorek D, Bramswig N, Laccone F, Behunova J, Rehder H, Gordon C, Rio M, Romana S, Tang S, El-Khechen D, Cho M, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann A, Stevens S, Zhang D, Traver D, Yao X, MacArthur D, Brunner H, Mancini G, Myers R, Owen L, Lim S, Stachura D, Vissers L, Ahn E
AM J HUM GENET. 2016;99(3):711-9.

Pathogenesis of minimal change nephrotic Syndrome: an immunological concept
Kim S, Park S, Han K, Kronbichler A, Saleem M, Oh J, Lim B, Shin J
KOREAN J PEDIATR. 2016;59(5):205-11.

Treatment of HIV and acute myeloid leukemia by allogeneic CCR5-d32 blood stem cell transplantation
Knops E, Kobbe G, Kaiser R, Luebke N, Dunay G, Fischer J, Huettig F, Wensing A, Haas R, Nijhuis M, Martinez-Picardo J, Haeussinger D, Jensen B
J CLIN VIROL. 2016;82(Supplement):.

Common variable immunodeficiency, impaired neurological development and reduced numbers of T regulatory cells in a 10-year-old boy with a STAT1 gain-of-function mutation
Kobbe R, Kolster M, Fuchs S, Schulze-Sturm U, Jenderny J, Kochhan L, Staab J, Tolosa E, Grimbacher B, Meyer T
GENE. 2016;586(2):234-8.

Dolutegravir in breast milk and maternal and infant plasma during breastfeeding
Kobbe R, Schalkwijk S, Dunay G, Eberhard J, Schulze-Sturm U, Hollwitz B, Degen O, Teulen M, Colbers A, Burger D
AIDS. 2016;30(17):2731-2733.

Mannose 6-phosphate-dependent targeting of lysosomal enzymes is required for normal craniofacial and dental development
Koehne T, Markmann S, Schweizer M, Muschol N, Friedrich R, Hagel C, Glatzel M, Kahl-Nieke B, Amling M, Schinke T, Braulke T
BBA-MOL BASIS DIS. 2016;1862(9):1570–1580.

CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis)
Kohlschütter A, Schulz A
PEDIATR ENDOCRINOL REV. 2016;13 (Suppl 1):682-8.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
Kremer L, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann G, Strom T, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack T
AM J HUM GENET. 2016;98:358-362.

Immunologic Changes Implicated in the Pathogenesis of Focal Segmental Glomerulosclerosis
Kronbichler A, Leierer J, Oh J, Meijers B, Shin J
BIOMED RES INT . 2016;2016:2150451.

Focal Segmental Glomerulosclerosis: Genetics, Mechanism, and Therapies
Kronbichler A, Oh J, Meijers B, Shin J
BIOMED RES INT . 2016;2016:9643785.

Real-life effectiveness of canakinumab in cryopyrin-associated periodic syndrome
Kuemmerle-Deschner J, Hofer F, Endres T, Kortus-Goetze B, Blank N, Weißbarth-Riedel E, Schuetz C, Kallinich T, Krause K, Rietschel C, Horneff G, Benseler S
RHEUMATOLOGY. 2016;55(4):689-96.

Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening
Kunz J, Awad S, Happich M, Muckenthaler L, Lindner M, Gramer G, Okun J, Hoffmann G, Bruckner T, Muckenthaler M, Kulozik A
ANN HEMATOL. 2016;95(3):397-402.

Device Landing Zone Calcification and Its Impact on Post Procedural Paravalvular Leakage after Transcatheter Aortic Valve Implantation with Two Generations of Balloon-expandable Transcatheter Heart Valves
Linder M, Seiffert M, Schofer N, Deuschl F, Schoen G, Schirmer J, Treede H, Blankenberg S, Reichenspurner H, Schaefer U, Conradi L
THORAC CARDIOV SURG. 2016;64(S 01):OP20.

rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk
Liu J, Lončar I, Collée J, Bolla M, Dennis J, Michailidou K, Wang Q, Andrulis I, Barile M, Behrens S, Benitez J, Blomqvist C, Boeckx B, Bogdanova N, Bojesen S, Brauch H, Brennan P, Brenner H, Broeks A, Burwinkel B, Chang-Claude J, Chen S, Chenevix-Trench G, Cheng Y, Choi J, Couch F, Cox A, Cross S, Cuk K, Czene K, Dörk T, Dos-Santos-Silva I, Fasching P, Figueroa J, Flyger H, García-Closas M, Giles G, Glendon G, Goldberg M, González-Neira A, Guénel P, Haiman C, Hamann U, Hart S, Hartman M, Hatse S, Hopper J, Ito H, Jakubowska A, Kabisch M, Kang D, Kosma V, Kristensen V, Le Marchand L, Lee E, Li J, Lophatananon A, Jan Lubinski , Mannermaa A, Matsuo K, Milne R, Neuhausen S, Nevanlinna H, Orr N, Perez J, Peto J, Putti T, Pylkäs K, Radice P, Sangrajrang S, Sawyer E, Schmidt M, Schneeweiss A, Shen C, Shrubsole M, Shu X, Simard J, Southey M, Swerdlow A, Teo S, Tessier D, Thanasitthichai S, Tomlinson I, Torres D, Truong T, Tseng C, Vachon C, Winqvist R, Wu A, Yannoukakos D, Zheng W, Hall P, Dunning A, Easton D, Hooning M, Ouweland A, Martens J, Hollestelle A
SCI REP-UK. 2016;6:36874.

Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression
Löbel U, Sedlacik J, Nickel M, Lezius S, Fiehler J, Nestrasil I, Kohlschütter A, Schulz A
AM J NEURORADIOL. 2016;37(10):1938 – 1943.

Hyperinsulinism-hyperammonemia Syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature
Ninković D, Sarnavka V, Bašnec A, Ćuk M, Ramadža D, Fumić K, Kušec V, Santer R, Barić I
J PEDIATR ENDOCR MET. 2016;29(9):1083-8.

SY 13-3 DISTRIBUTION OF 24-H AMBULATORY BLOOD PRESSURE IN CHILDREN
Oh J
J HYPERTENS. 2016;34 Suppl 1 - ISH 2016 Abstract Book:e368.

Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer
Painter J, O'Mara T, Marquart L, Webb P, Attia J, Medland S, Cheng T, Dennis J, Holliday E, McEvoy M, Scott R, Ahmed S, Healey C, Shah M, Gorman M, Martin L, Hodgson S, Ekici A, Fasching P, Hein A, Rübner M, Czene K, Darabi H, Hall P, Li J, Dörk T, Dürst M, Hillemanns P, Runnebaum I, Amant F, Annibali D, Depreeuw J, Lambrechts D, Neven P, Cunningham J, Dowdy S, Goode E, Fridley B, Winham S, Njølstad T, Salvesen H, Trovik J, Werner H, Ashton K, Otton G, Proietto A, Mints M, Tham E, Bolla M, Michailidou K, Wang Q, Tyrer J, Hopper J, Peto J, Swerdlow A, Burwinkel B, Brenner H, Meindl A, Brauch H, Lindblom A, Chang-Claude J, Couch F, Giles G, Kristensen V, Cox A, Pharoah P, Tomlinson I, Dunning A, Easton D, Thompson D, Spurdle A
CANCER EPIDEM BIOMAR. 2016;25(11):1503-1510.

Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration
Permuth J, Reid B, Earp M, Chen A, Monteiro A, Chen Z, Chenevix-Trench G, Fasching P, Lambrechts D, Vanderstichele A, Van Niewenhuyse E, Vergote I, Rossing M, Doherty J, Chang-Claude J, Moysich K, Odunsi K, Goodman M, Shvetsov Y, Wilkens L, Thompson P, Dörk T, Bogdanova N, Butzow R, Nevanlinna H, Pelttari L, Leminen A, Modugno F, Edwards R, Ness R, Kelley J, Heitz F, Karlan B, Lester J, Kjaer S, Jensen A, Giles G, T Hildebrandt M, Liang D, Lu K, Wu X, Levine D, Bisogna M, Berchuck A, Cramer D, Terry K, Tworoger S, Poole E, Bandera E, Fridley B, Cunningham J, Winham S, Olson S, Orlow I, Bjorge L, Kiemeney L, Massuger L, Pejovic T, Moffitt M, Le N, Cook L, Brooks-Wilson A, Kelemen L, Gronwald J, Lubinski J, Wentzensen N, Brinton L, Lissowska J, Yang H, Hogdall E, Hogdall C, Lundvall L, Pharoah P, Song H, Campbell I, Eccles D, McNeish I, Whittemore A, McGuire V, Sieh W, Rothstein J, Phelan C, Risch H, Narod S, McLaughlin J, Anton-Culver H, Ziogas A, Menon U, Gayther S, Ramus S, Gentry-Maharaj A, Pearce C, Wu A, Kupryjanczyk J, Dansonka-Mieszkowska A, Schildkraut J, Cheng J, Goode E, Sellers T
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Empfehlungen zur infektiologischen Versorgung von Flüchtlingen im Kindes- und Jugendalter in Deutschland: Stellungnahme der Deutschen Gesellschaft für Pädiatrische Infektiologie, der Gesellschaft für Tropenpädiatrie und Internationale Kindergesundheit und des Berufsverbandes der Kinder- und Jugendärzte
Pfeil J, Kobbe R, Trapp S, Kitz C, Hufnagel M
INTERNIST. 2016;57(5):416-33.

Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells
Pinheiro A, Silva M, Pavlu-Pereira H, Florindo C, Barroso M, Marques B, Correia H, Oliveira A, Gaspar A, Tavares de Almeida I, Rivera I
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Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family
Pinheiro A, Silva M, Pavlu-Pereira H, Florindo C, Barroso M, Marques B, Correia H, Oliveira A, Gaspar A, Tavares de Almeida I, Rivera I
DATA BRIEF. 2016;9:68-77.

Surgical complications after peritoneal dialysis catheter implantation depend on children's weight
Radtke J, Lemke A, Kemper M, Nashan B, Koch M
J PEDIATR SURG. 2016;51(8):1317-20.

Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome
Rensing-Ehl A, Allgäuer A, Schreiner E, Lorenz M, Rohr J, Klemann C, Fuchs I, Schuster V, von Bueren A, Naumann-Bartsch N, Gambineri E, Siepermann K, Kobbe R, Nathrath M, Arkwright P, Miano M, Stachel K, Metzler M, Schwarz K, Kremer A, Speckmann C, Ehl S, Mackensen A
BLOOD. 2016;128(2):227-38.

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis
Santer R, du Moulin M, Shahinyan T, Vater I, Maier E, Muntau A, Steinmann B
ORPHANET J RARE DIS. 2016;11:44.

Phenylketonuria: Direct and indirect effects of phenylalanine
Schlegel G, Scholz R, Ullrich K, Santer R, Rune G
EXP NEUROL. 2016;281:28-36.

Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation
Schmidt M, Breyer S, Löbel U, Yarar S, Stücker R, Ullrich K, Müller I, Muschol N
ORPHANET J RARE DIS. 2016;11(1):93.

Skin conductance in neonates suffering from abstinence syndrome and unexposed newborns
Schubach N, Mehler K, Roth B, Korsch E, Laux R, Singer D, von der Wense A, Treszl A, Hünseler C
EUR J PEDIATR. 2016;175(6):859-68.

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome
Sentner C, Hoogeveen I, Weinstein D, Santer R, Murphy E, McKiernan P, Steuerwald U, Beauchamp N, Taybert J, Laforêt P, Petit F, Hubert A, Labrune P, Smit G, Derks T
J INHERIT METAB DIS. 2016;39(5):697-704.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Shashi V, Pena L, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin H, Cho M, Stong N, Hickey S, Shuss C, , Freemark M, Bellet J, Keels M, Bonner M, El-Dairi M, Butler M, Kranz P, Stumpel C, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki M, Hoischen A, Need A, Goldstein D, Kortüm F
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Perinatale Asphyxie - ein gleitendes Kontinuum.
Singer D
2016. CTG - verstehen, bewerten, dokumentieren.. Schwarz C, Stahl K (Hrsg.). 4. Aufl. Hannover: Elwin Staude Verlag, 29-36.

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
Southey M, Goldgar D, Winqvist R, Pylkäs K, Couch F, Tischkowitz M, Foulkes W, Dennis J, Michailidou K, van Rensburg E, Heikkinen T, Nevanlinna H, Hopper J, Dörk T, Claes K, Reis-Filho J, Teo Z, Radice P, Catucci I, Peterlongo P, Tsimiklis H, Odefrey F, Dowty J, Schmidt M, Broeks A, Hogervorst F, Verhoef S, Carpenter J, Clarke C, Scott R, Fasching P, Haeberle L, Ekici A, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Bolla M, Sawyer E, Tomlinson I, Kerin M, Miller N, Marme F, Burwinkel B, Yang R, Guénel P, Truong T, Menegaux F, Sanchez M, Bojesen S, Nielsen S, Flyger H, Benitez J, Zamora M, Perez J, Menéndez P, Anton-Culver H, Neuhausen S, Ziogas A, Clarke C, Brenner H, Arndt V, Stegmaier C, Brauch H, Brüning T, Ko Y, Muranen T, Aittomäki K, Blomqvist C, Bogdanova N, Antonenkova N, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma V, Hartikainen J, Spurdle A, Investigators K, Wauters E, Smeets D, Beuselinck B, Floris G, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Olson J, Vachon C, Pankratz V, McLean C, Haiman C, Henderson B, Schumacher F, Le Marchand L, Kristensen V, Alnæs G, Zheng W, Hunter D, Lindstrom S, Hankinson S, Kraft P, Andrulis I, Knight J, Glendon G, Mulligan A, Jukkola-Vuorinen A, Grip M, Kauppila S, Devilee P, Tollenaar R, Seynaeve C, Hollestelle A, Garcia-Closas M, Figueroa J, Chanock S, Lissowska J, Czene K, Darabi H, Eriksson M, Eccles D, Rafiq S, Tapper W, Gerty S, Hooning M, Martens J, Collée J, Tilanus-Linthorst M, Hall P, Li J, Brand J, Humphreys K, Cox A, Reed M, Luccarini C, Baynes C, Dunning A, Hamann U, Torres D, Ulmer H, Rüdiger T, Jakubowska A, Lubinski J, Jaworska K, Durda K, Slager S, Toland A, Ambrosone C, Yannoukakos D, Swerdlow A, Ashworth A, Orr N, Jones M, González-Neira A, Pita G, Alonso M, Álvarez N, Herrero D, Tessier D, Vincent D, Bacot F, Simard J, Dumont M, Soucy P, Eeles R, Muir K, Wiklund F, Gronberg H, Schleutker J, Nordestgaard B, Weischer M, Travis R, Neal D, Donovan J, Hamdy F, Khaw K, Stanford J, Blot W, Thibodeau S, Schaid D, Kelley J, Maier C, Kibel A, Cybulski C, Cannon-Albright L, Butterbach K, Park J, Kaneva R, Batra J, Teixeira M, Kote-Jarai Z, Olama A, Benlloch S, Renner S, Hartmann A, Hein A, Ruebner M, Lambrechts D, van Nieuwenhuysen E, Vergote I, Lambretchs S, Doherty J, Rossing M, Nickels S, Eilber U, Wang-Gohrke S, Odunsi K, Sucheston-Campbell L, Friel G, Lurie G, Killeen J, Wilkens L, Goodman M, Runnebaum I, Hillemanns P, Pelttari L, Butzow R, Modugno F, Edwards R, Ness R, Moysich K, du Bois A, Heitz F, Harter P, Kommoss S, Karlan B, Walsh C, Lester J, Jensen A, Kjaer S, Høgdall E, Peissel B, Bonanni B, Bernard L, Goode E, Fridley B, Vierkant R, Cunningham J, Larson M, Fogarty Z, Kalli K, Liang D, Lu K, T Hildebrandt M, Wu X, Levine D, Dao F, Bisogna M, Berchuck A, Iversen E, Marks J, Akushevich L, Cramer D, Schildkraut J, Terry K, Poole E, Stampfer M, Tworoger S, Bandera E, Orlow I, Olson S, Bjorge L, Salvesen H, Altena A, Aben K, Kiemeney L, Massuger L, Pejovic T, Bean Y, Brooks-Wilson A, Kelemen L, Cook L, Le N, Górski B, Gronwald J, Menkiszak J, Høgdall C, Lundvall L, Nedergaard L, Engelholm S, Dicks E, Tyrer J, Campbell I, McNeish I, Paul J, Siddiqui N, Glasspool R, Whittemore A, Rothstein J, McGuire V, Sieh W, Cai H, Shu X, Teten R, Sutphen R, McLaughlin J, Narod S, Phelan C, Monteiro A, Fenstermacher D, Lin H, Permuth J, Sellers T, Chen A, Tsai Y, Chen Z, Gentry-Maharaj A, Gayther S, Ramus S, Menon U, Wu A, Pearce C, van den Berg D, Pike M, Dansonka-Mieszkowska A, Plisiecka-Halasa J, Moes-Sosnowska J, Kupryjanczyk J, Pharoah P, Song H, Winship I, Chenevix-Trench G, Giles G, Tavtigian S, Easton D, Milne R
J MED GENET. 2016;53(12):800-811.

Genetic cause and prevalence of hydroxyprolinemia
Staufner C, Haack T, Feyh P, Gramer G, Raga D, Terrile C, Sauer S, Okun J, Fang-Hoffmann J, Mayatepek E, Prokisch H, Hoffmann G, Kölker S
J INHERIT METAB DIS. 2016;39(5):625-632.

Bile salt export pump-reactive antibodies form a polyclonal, multi-inhibitory response in antibody-induced bile salt export pump deficiency
Stindt J, Kluge S, Dröge C, Keitel V, Stross C, Baumann U, Brinkert F, Dhawan A, Engelmann G, Ganschow R, Gerner P, Grabhorn E, Knisely A, Noli K, Pukite I, Shepherd R, Ueno T, Schmitt L, Wiek C, Hanenberg H, Häussinger D, Kubitz R
HEPATOLOGY. 2016;63(2):524-37.

Transcriptomic and metabolic analyses reveal salvage pathways in creatine-deficient AGAT(-/-) mice
Stockebrand M, Nejad A, Neu A, Kharbanda K, Sauter K, Schillemeit S, Isbrandt D, Choe C
AMINO ACIDS. 2016;48(8):2025-39.

Impaired phosphorylation of JAK2-STAT5b signaling in fibroblasts from uremic children
Ugarte F, Irarrazabal C, Oh J, Dettmar A, Ceballos M, Rojo A, Ibacache M, Suazo C, Lozano M, Delgado I, Cavada G, Azocar M, Delucchi A, Cano F
PEDIATR NEPHROL. 2016;31(6):965-74.

Identification of the interaction domains between α- and γ-subunits of GlcNAc-1-phosphotransferase
Velho R, De Pace R, Tidow H, Braulke T, Pohl S
FEBS LETT. 2016;590(23):4287-4295.

Nephrin Contributes to Insulin Secretion and Affects Mammalian Target of Rapamycin Signaling Independently of Insulin Receptor
Villarreal R, Mitrofanova A, Maiguel D, Morales X, Jeon J, Grahammer F, Leibiger I, Guzman J, Fachado A, Yoo T, Busher Katin A, Gellermann J, Merscher S, Burke G, Berggren P, Oh J, Huber T, Fornoni A
J AM SOC NEPHROL. 2016;27(4):1029-41.

Langzeitverlauf nach STEC-HUS Epidemie (2011) assoziiert mit Shiga-Toxin produzierenden E.coli O104:H4 in Deutschland: erste Ergebnisse
Aulbert W, Loos S, Kranz B, Konrad M, Wigger M, Staude H, Krause M, Müller D, Lemke J, Beringer O, Kropp F, Haffner D, Pape L, Ahlenstiel-Grunow T, Hoppe B, Oh J, Kemper M
2015. Nieren- und Hochdruckkrankheiten. 2. Aufl. Dustri-Verlag, 39-110.

Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations
Bergholz R, Kohlschütter A, Schulz A, Hubert W, Rüther K
GRAEF ARCH CLIN EXP. 2015;253(8):1245-1250.

Mannose 6-phosphate-independent Lysosomal Sorting of LIMP-2.
Blanz J, Zunke F, Markmann S, Damme M, Braulke T, Saftig P, Schwake M
TRAFFIC. 2015;16(10):1127-1136.

Successful detoxification and liver transplantation in a severe poisoning with a chemical wood preservative containing chromium, copper, and arsenic
Breuer C, Oh J, Nolkemper D, Achilles E, Fischer L, Eglite I, Güsmer C, Heitland P, Koester H, Brinkert F, Singer D, Blohm M
TRANSPLANTATION. 2015;99(4):e29-30.

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study
Burton B, Berger K, Lewis G, Tarnopolsky M, Treadwell M, Mitchell J, Muschol N, Jones S, Sutton V, Pastores G, Lau H, Sparkes R, Genter F, Shaywitz A, Harmatz P
AM J MED GENET A. 2015;167A(10):2272-2281.

Sedation and analgesia practices in neonatal intensive care units (EUROPAIN): results from a prospective cohort study
Carbajal R, Eriksson M, Courtois E, Boyle E, Avila-Alvarez A, Andersen R, Sarafidis K, Polkki T, Matos C, Lago P, Papadouri T, Montalto S, Ilmoja M, Simons S, Tameliene R, van Overmeire B, Berger A, Dobrzanska A, Schroth M, Bergqvist L, Lagercrantz H, Anand K, , Deindl P
LANCET RESP MED. 2015;3(10):796-812.

Association of the transcobalamin II gene 776C → G polymorphism with Alzheimer's type dementia: dependence on the 5, 10-methylenetetrahydrofolate reductase 1298A → C polymorphism genotype
Cascalheira J, Gonçalves M, Barroso M, Castro R, Palmeira M, Serpa A, Dias-Cabral A, Domingues F, Almeida S
ANN CLIN BIOCHEM. 2015;52(Pt 4):448-55.

POLR3A and POLR3B Mutations in Unclassified Hypomyelination
Cayami F, La Piana R, van Spaendonk R, Nickel M, Bley A, Guerrero K, Tran L, van der Knaap M, Bernard G, Wolf N
NEUROPEDIATRICS. 2015;46(3):221-7.

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
Chien Y, Abdenur J, Baronio F, Bannick A, Corrales F, Couce M, Donner M, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu W, James P, Kim S, Korman S, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson W, Wortmann S, Yamamoto S, Pao M, Blom H
ORPHANET J RARE DIS. 2015;10:Art. 99.

Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria
Danecka M, Woidy M, Zschocke J, Feillet F, Muntau A, Gersting S
J MED GENET. 2015;52(3):175-185.

Mechanische Beatmung
Deindl P, Ibla J, Hansmann G
2015. Neugeborenen-Notfälle. Hansmann G (Hrsg.). 2. Aufl. Schattauer, .

An instructional video enhanced bag-mask ventilation quality during simulated newborn resuscitation
Deindl P, Schwindt J, Berger A, Schmölzer G
ACTA PAEDIATR. 2015;104(1):E20-E26.

Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex
De Pace R, Voltolini Velho R, Encarnação M, Marschner K, Braulke T, Pohl S
HUM MOL GENET. 2015;24(23):6826-6835.

Pathogenese und Therapie des steroidsensiblen (minimal change) nephrotischen Syndroms: Neue Aspekte
Dettmar A, Oh J
Päd Praxis. 2015;83(3):455-466.

Forensische Pädopathologie: Akzidentelle Vergiftung durch Inhalation und Exposition gegenüber CO-haltigem Shisha-Rauch.
Dietz E, Kappus S, Ulrich M, Grabhorn E, Püschel K
päd Praktische Pädiatrie. 2015;21(5):288-291.

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway
Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A
AUTOPHAGY. 2015;11(6):928-38.

Markers of bone metabolism are affected by renal function and growth hormone therapy in children with chronic kidney disease
Doyon A, Fischer D, Bayazit A, Canpolat N, Duzova A, Sözeri B, Bacchetta J, Balat A, Büscher A, Candan C, Cakar N, Donmez O, Dusek J, Heckel M, Klaus G, Mir S, Özcelik G, Sever L, Shroff R, Vidal E, Wühl E, Gondan M, Melk A, Querfeld U, Haffner D, Schaefer F
PLOS ONE. 2015;10(2):Art. e0113482.

A Case of a Bilateral Cicatricial Upper Eyelid Entropion After Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type I
Dulz S, Wagenfeld L, Richard G, Schrum J, Muschol N, Keserü M
OPHTHAL PLAST RECONS. 2015.

Depressed calcium cycling contributes to lower ischemia tolerance in hearts of estrogen-deficient rats
Dunay G, Paragi P, Sára L, Ács N, Balázs B, Ágoston V, Répás C, Ivanics T, Miklós Z
MENOPAUSE. 2015;22(7):773-82.

A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe
Fazeli W, Kaczmarek S, Kirschstein M, Santer R
BMC GASTROENTEROL. 2015;15:Art. 90.

Persistierende pulmonale Hypertonie des Neugeborenen und chronisch progressive pulmonale Hypertonie im ersten Lebensjahr
Giagnorio R, Deindl P, Brinkmann E, Ehrenberg K, Jonigk D, Hansmann G
Kinder- und Jugendmedizin. 2015;15(05):362-373.

Preoperative anemia is associated with adverse outcome in patients with urothelial carcinoma of the bladder following radical cystectomy
Gierth M, Mayr R, Aziz A, Krieger S, Wullich B, Pycha A, Lodde M, Salvadori U, Bründl J, Fritsche H, Hofstädter F, Pawlik M, Otto W, May M, Burger M, Denzinger S
J CANCER RES CLIN. 2015;141(10):1819-26.

Angeborene Herzfehler – Hypoplastisches Linksherzsyndrom (HLHS): Interdisziplinäres Management in Geburtshilfe und Neonatologie
Gottschalk U, Diemert A, Sachweh J, Singer D, Hecher K
Z GEBURTSH NEONATOL. 2015;219(3):113-117.

Long-Term Clinical Relevance of De Novo Donor-Specific Antibodies After Pediatric Liver Transplantation
Grabhorn E, Binder T, Obrecht D, Brinkert F, Lehnhardt A, Herden U, Peine S, Nashan B, Ganschow R, Briem-Richter A
TRANSPLANTATION. 2015;99(9):1876-1881.

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening
Gramer G, Haege G, Fang-Hoffmann J, Hoffmann G, Bartram C, Hinderhofer K, Burgard P, Lindner M
JIMD reports. 2015;23:101-12.

Migraine and Vasospasm in Glaucoma: Age-Related Evaluation of 2027 Patients With Glaucoma or Ocular Hypertension
Gramer G, Weber B, Gramer E
INVEST OPHTH VIS SCI. 2015;56(13):7999-8007.

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity
Günther C, Kind B, Reijns M, Berndt N, Martinez-Bueno M, Wolf C, Tüngler V, Chara O, Lee Y, Hübner N, Bicknell L, Blum S, Krug C, Schmidt F, Kretschmer S, Koss S, Astell K, Ramantani G, Bauerfeind A, Morris D, Cunninghame Graham D, Bubeck D, Leitch A, Ralston S, Blackburn E, Gahr M, Witte T, Vyse T, Melchers I, Mangold E, Nöthen M, Aringer M, Kuhn A, Lüthke K, Unger L, Bley A, Lorenzi A, Isaacs J, Alexopoulou D, Conrad K, Dahl A, Roers A, Alarcon-Riquelme M, Jackson A, Lee-Kirsch M
J CLIN INVEST. 2015;125(1):413-424.

Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany
Hahn A, Praetorius S, Karabul N, Dießel J, Schmidt D, Motz R, Haase C, Baethmann M, Hennermann J, Smitka M, Santer R, Muschol N, Meyer A, Marquardt T, Huemer M, Thiels C, Rohrbach M, Seyfullah G, Mengel E
JIMD reports. 2015;20:65-75.

Very low birth-weight as a risk factor for postpartum depression four to six weeks postbirth in mothers and fathers: Cross-sectional results from a controlled multicentre cohort study.
Helle N, Barkmann C, Bartz-Seel J, Diehl T, Ehrhardt S, Hendel A, Nestoriuc Y, Schulte-Markwort M, Dr. von der Wense A, Bindt C
J AFFECT DISORDERS. 2015;180:154-161.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
Hempel M, Cremer K, Ockeloen C, Lichtenbelt K, Herkert J, Denecke J, Haack T, Zink A, Becker J, Wohlleber E, Johannsen J, Alhaddad B, Pfundt R, Fuchs S, Wieczorek D, Strom T, van Gassen K, Kleefstra T, Kubisch C, Engels H, Lessel D
AM J HUM GENET. 2015;97(3):493-500.

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial
Hendriksz C, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, Parini R, Hughes D, Pastores G, Lau H, Al-Sayed M, Raiman J, Yang K, Mealiffe M, Haller C
MOL GENET METAB. 2015;114(2):178-85.

Spezifische Symptomkombination der chronischen Quecksilberintoxikation: Arterielle Hypertension, Entwicklungsregression und Automutilation
Hermann K, Varwig-Janßen D, Budnik L, Nordholt G, Reinshagen K, Oh J, Santer R, Mühlhausen C
MONATSSCHR KINDERH. 2015;163(6):570-574.

Serum Shiga toxin 2 values in patients during acute phase of diarrhoea-associated haemolytic uraemic syndrome
He X, Quiñones B, Loo M, Loos S, Scavia G, Brigotti M, Levtchenko E, Monnens L
ACTA PAEDIATR. 2015;104(12):e564-8.

Aktuelle Ergebnisse notfallmedizinischer Forschung 2013/2014
Hinkelbein J, Braunecker S, Singer D, Trentzsch H, Thiele H, Böhm L, Bernhard M, Böttiger B
Notfallmedizin up2date. 2015;10(1):73-96.

Aktuelle Ergebnisse notfallmedizinischer Forschung 2014/2015: Teil 1: Reanimation, Atemwegsmanagement, kardiovaskuläre und neurologische Erkrankungen
Hinkelbein J, Singer D, Trentzsch H, Braunecker S, Böhm L, Bernhard M, Cirillo F, Thiele H, Böttiger B
Notfallmedizin up2date. 2015;10(04):353-368.

Aktuelle Ergebnisse notfallmedizinischer Forschung 2014/2015: Teil 2: Traumatologie, pädiatrische Notfälle
Hinkelbein J, Singer D, Trentzsch H, Braunecker S, Böhm L, Bernhard M, Cirillo F, Thiele H, Böttiger B
Notfallmedizin up2date. 2015;10(04):369-384.

Hippocampal synaptic connectivity in phenylketonuria
Horling K, Schlegel G, Schulz S, Vierk R, Ullrich K, Santer R, Rune G
HUM MOL GENET. 2015;4(24):1007-1018.

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data
Huemer M, Bürer C, Ješina P, Kožich V, Landolt M, Suormala T, Fowler B, Augoustides-Savvopoulou P, Blair E, Brennerova K, Broomfield A, De Meirleir L, Gökcay G, Hennermann J, Jardine P, Koch J, Lorenzl S, Lotz-Havla A, Noss J, Parini R, Peters H, Plecko B, Ramos F, Schlune A, Tsiakas K, Zerjav Tansek M, Baumgartner M
J INHERIT METAB DIS. 2015;38(5):957-967.

Sustained Neural Stem Cell-Based Intraocular Delivery of CNTF Attenuates Photoreceptor Loss in the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis
Jankowiak W, Kruszewski K, Flachsbarth K, Skevas C, Richard G, Rüther K, Braulke T, Bartsch U
PLOS ONE. 2015;10(5):e0127204.

Konnataler Morbus Basedow mit begleitender konjugierter Hyperbilirubinämie
Kabisch S, Wolf M, Akkurt I, Singer D
Päd Praxis. 2015;84(2):191-195.

Complement Interactions with Blood Cells, Endothelial Cells and Microvesicles in Thrombotic and Inflammatory Conditions
Karpman D, Ståhl A, Arvidsson I, Johansson K, Loos S, Tati R, Békássy Z, Kristoffersson A, Mossberg M, Kahn R
ADV EXP MED BIOL. 2015;865:19-42.

Response to cyclosporine in steroid-resistant nephrotic Syndrome: discontinuation is possible
Klaassen I, Özgören B, Sadowski C, Möller K, Van Husen M, Lehnhardt A, Timmermann K, Freudenberg F, Helmchen U, Oh J, Kemper M
PEDIATR NEPHROL. 2015;30(9):1477-1483.

Risk of Rotavirus Vaccination for Children with SCID
Klinkenberg D, Blohm M, Hoehne M, Mas Marques A, Malecki M, Schildgen V, Schneppenheim R, Müller I, Schildgen O, Kobbe R
PEDIATR INFECT DIS J. 2015;34(1):114-5.

Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control
Klünder S, Heeren J, Markmann S, Santer R, Braulke T, Pohl S
J LIPID RES. 2015;56(8):1625-32.

The ESPID/ESWI Joint Symposium - A strong vote for universal influenza vaccination in children in Europe
Kobbe R
VACCINE. 2015;33(49):6967-9.

Extracellular Vesicles from MSC Modulate the Immune Response to Renal Allografts in a MHC Disparate Rat Model
Koch M, Lemke A, Lange C
Stem Cells Int. 2015;2015:486141.

Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene
Köhler C, Heyer C, Hoffjan S, Stemmler S, Lücke T, Thiels C, Kohlschütter A, Löbel U, Horvath R, Kleinle S, Benet-Pagès A, Abicht A
MOL CELL PROBE. 2015;29(5):319-322.

Ethical issues with artificial nutrition of children with degenerative brain diseases
Kohlschütter A, Riga C, Crespo D, Torres J, Penchaszadeh V, Schulz A
BBA-MOL BASIS DIS. 2015;1852(7):1253-1256.

Reprint of "Ethical issues with artificial nutrition of children with degenerative brain diseases"
Kohlschütter A, Riga C, Crespo D, Torres J, Penchaszadeh V, Schulz A
BBA-MOL BASIS DIS. 2015;1852(10 Pt B):2312-5.

Demenzerkrankungen bei Kindern und Jugendlichen
Kohlschütter A, Schulz A, Bley A, Nickel M, Richterich A
Päd Praxis. 2015;83:561-570.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Kölker S, Cazorla A, Valayannopoulos V, Lund A, Burlina A, Sykut-Cegielska J, Wijburg F, Teles E, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux J, Avram P, Baumgartner M, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont E, Couce M, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny H, Ortez C, Peña-Quintana L, Ramadža D, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar M, Thompson N, Vara R, Pinera I, Walter J, Williams M, Burgard P
J INHERIT METAB DIS. 2015;38(6):1041-1057.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Kölker S, Valayannopoulos V, Burlina A, Sykut-Cegielska J, Wijburg F, Teles E, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux J, Avram P, Baumgartner M, Blasco-Alonso J, Boy S, Rasmussen M, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce M, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González M, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny H, Ortez C, Pedrón C, Pintos-Morell G, Pena-Quintana L, Ramadža D, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar M, Thompson N, Vara R, Pinera I, Walter J, Williams M, Lund A, Cazorla A
J INHERIT METAB DIS. 2015;38(6):1059-1074.

Impaired bone remodeling and its correction by combination therapy in a mouse model of mucopolysaccharidosis-I
Kühn S, Koehne T, Cornils K, Markmann S, Riedel C, Pestka J, Schweizer M, Baldauf C, Yorgan T, Krause M, Keller J, Neven M, Breyer S, Stücker R, Muschol N, Busse B, Braulke T, Fehse B, Amling M, Schinke T
HUM MOL GENET. 2015;24(24):7075-7086.

8p deletion is strongly linked to poor prognosis in breast cancer
Lebok P, Mittenzwei A, Kluth M, Özden C, Taskin B, Hussein K, Möller K, Hartmann A, Lebeau A, Witzel I, Mahner S, Wölber L, Jänicke F, Geist S, Paluchowski P, Wilke C, Heilenkötter U, Simon R, Sauter G, Terracciano L, Krech R, von der Assen A, Müller V, Burandt E
CANCER BIOL THER. 2015;16(7):1080-7.

Clinical and Molecular Characterization of Patients with Heterozygous Mutations in Wilms Tumor Suppressor Gene 1
Lehnhardt A, Karnatz N, Ahlenstiel-Grunow T, Benz K, Benz M, Budde K, Büscher A, Fehr T, Feldkötter M, Graf N, Höcker B, Jungraithmayr T, Klaus G, Koehler B, Konrad M, Kranz B, Montoya C, Müller D, Neuhaus T, Oh J, Pape L, Pohl M, Royer-Pokora B, Querfeld U, Schneppenheim R, Staude H, Spartà G, Timmermann K, Wilkening F, Wygoda S, Bergmann C, Kemper M
CLIN J AM SOC NEPHRO. 2015;10(5):825-831.

High B-cell activating factor is not associated with worse 3-year graft outcome in blood group-incompatible kidney transplantation with rituximab induction
Lehnhardt A, Strecker M, Eiermann T, Marget M, Thaiss F, Nashan B, Koch M
CLIN TRANSPLANT. 2015.

Rat renal transplant model for mixed acute humoral and cellular rejection: Weak correlation of serum cytokines/chemokines with intragraft changes
Lemke A, Noriega M, Röske A, Kemper M, Nashan B, Falk C, Koch M
TRANSPL IMMUNOL. 2015;33(2):95-102.

The challenges of managing coexistent disorders with phenylketonuria: 30 cases
MacDonald A, Ahring K, Almeida M, Belanger-Quintana A, Blau N, Burlina A, Cleary M, Coskum T, Dokoupil K, Evans S, Feillet F, Giżewska M, Gokmen Ozel H, Lotz-Havla A, Kamieńska E, Maillot F, Lammardo A, Muntau A, Puchwein-Schwepcke A, Robert M, Rocha J, Santra S, Skeath R, Strączek K, Trefz F, van Dam E, van Rijn M, van Spronsen F, Vijay S
MOL GENET METAB. 2015;116(4):242-51.

Treatment during a vulnerable developmental period rescues a genetic epilepsy
Marguet S, Le-Schulte V, Merseburg A, Neu A, Eichler R, Jakovcevski I, Ivanov A, Hanganu-Opatz I, Bernard C, Morellini F, Isbrandt D
NAT MED. 2015;21(12):1436-44.

Lrp1/LDL receptor play critical roles in mannose 6-phosphate-independent lysosomal enzyme targeting
Markmann S, Thelen M, Cornils K, Schweizer M, Brocke-Ahmadinejad N, Willnow T, Heeren J, Gieselmann V, Braulke T, Kollmann K
TRAFFIC. 2015.

Phenotypic and molecular insights into CASK-related disorders in males
Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders C, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel C, Van Maldergem L, Kutsche K
ORPHANET J RARE DIS. 2015;10(1):44.

Chronische Krankheit in der Familie
Morgenstern L, Grolle B, Johannsen J, Denecke J, Bindt C, Wiegand-Grefe S
2015. 9. Workshopkongress für Klinische Psychologie und Psychotherapie & 33. Symposium der Fachgruppe Klinische Psychologie und Psychotherapie der DGPs. .

Lebensqualität von chronisch erkrankten Kindern und ihren Familien
Morgenstern L, Grolle B, Johannsen J, Denecke J, Bindt C, Wiegand-Grefe S
2015. 22. Kongress des Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke e.V. (DGM). .

Lebensqualität von langzeitbeatmeten Kindern und ihren Familien
Morgenstern L, Grolle B, Johannsen J, Denecke J, Bindt C, Wiegand-Grefe S
2015. 23. Jahreskongress der Deutschen Interdisziplinären Gesellschaft für Außerklinische Beatmung (DIGAB) e.V.. German Medical Science GMS Publishing House, .

Kurzlehrbuch Pädiatrie
Muntau A
2015. Kurzlehrbuch Pädiatrie. 1. Aufl. München: Urban & Fischer, 1-479.

Near-normal values of extravascular lung water in children
Nusmeier A, Cecchetti C, Blohm M, Lehman R, van der Hoeven J, Lemson J
PEDIATR CRIT CARE ME. 2015;16(2):E28-E33.

Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions
Otomo T, Schweizer M, Kollmann K, Schumacher V, Muschol N, Tolosa E, Mittrücker H, Braulke T
J CELL BIOL. 2015;208(2):171-80.

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation
Park J, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden A, Reunert J, Schlingmann K, Boycott K, Beaulieu C, Mhanni A, Innes A, Hörtnagel K, Biskup S, Gleixner E, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert D, Rust S, Marquardt T
AM J HUM GENET. 2015;97(6):894-903.

Biosynthesis, targeting, and processing of lysosomal Proteins: pulse-chase labeling and immune precipitation
Pohl S, Hasilik A
METHODS CELL BIOL. 2015;126:63-83.

Brainstem disconnection: two additional patients and expansion of the phenotype
Poretti A, Denecke J, Miller D, Schiffmann H, Buhk J, Grange D, Doherty D, Boltshauser E
NEUROPEDIATRICS. 2015;46(2):139-44.

Re: Mumps vaccine effectiveness and risk factors for disease in households during an outbreak in New York City
Rau C, Danovaro-Holliday M
VACCINE. 2015;33(29):3273.

Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity
Reitzle L, Maier B, Stojanov S, Teupser D, Muntau A, Vogeser M, Gersting S
CLIN BIOCHEM. 2015;48(12):781-7.

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome
Sadowski C, Lovric S, Ashraf S, Pabst W, Gee H, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers M, Tan W, Shril S, Fessi I, Lifton R, Bockenhauer D, El-Desoky S, Kari J, Zenker M, Kemper M, Mueller D, Fathy H, Soliman N, Hildebrandt F
J AM SOC NEPHROL. 2015;26(6):1279-1289 .

Neuronal Na+/K+ ATPase is an autoantibody target in paraneoplastic neurologic syndrome
Scharf M, Miske R, Heidenreich F, Giess R, Landwehr P, Blöcker I, Begemann N, Denno Y, Tiede S, Dähnrich C, Schlumberger W, Unger M, Teegen B, Stöcker W, Probst C, Komorowski L
NEUROLOGY. 2015;84(16):1673-9.

A novel mechanism of bacterial toxin transfer within host blood cell-derived microvesicles
Ståhl A, Arvidsson I, Johansson K, Chromek M, Rebetz J, Loos S, Kristoffersson A, Békássy Z, Mörgelin M, Karpman D
PLOS PATHOG. 2015;11(2):e1004619.

Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene
Stendel C, Gallenmüller C, Peters K, Bürger F, Gramer G, Biskup S, Klopstock T
J NEUROL. 2015;262(4):1072-3.

Homoarginine supplementation improves blood glucose in diet-induced obese mice
Stockebrand M, Hornig S, Neu A, Atzler D, Cordts K, Böger R, Isbrandt D, Schwedhelm E, Choe C
AMINO ACIDS. 2015;47(9):1921-9.

Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children: The PodoNet Registry Cohort
Trautmann A, Bodria M, Ozaltin F, Gheisari A, Melk A, Azocar M, Anarat A, Caliskan S, Emma F, Gellermann J, Oh J, Baskin E, Ksiazek J, Remuzzi G, Erdogan O, Akman S, Dusek J, Davitaia T, Özkaya O, Papachristou F, Firszt-Adamczyk A, Urasinski T, Testa S, Krmar R, Hyla-Klekot L, Pasini A, Özcakar Z, Sallay P, Cakar N, Galanti M, Terzic J, Aoun B, Caldas Afonso A, Szymanik-Grzelak H, Lipska B, Schnaidt S, Schaefer F
CLIN J AM SOC NEPHRO. 2015;10(4):592-600.

Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling
Trefz F, Lichtenberger O, Blau N, Muntau A, Feillet F, Bélanger-Quintana A, van Spronsen F, Munafo A
MOL GENET METAB. 2015;114(4):564-9.

The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin
Trefz F, Muntau A, Lagler F, Moreau F, Alm J, Burlina A, Rutsch F, Bélanger-Quintana A, Feillet F
JIMD reports. 2015;23:35-43.

Management of adult patients with phenylketonuria: survey results from 24 countries
Trefz F, van Spronsen F, MacDonald A, Feillet F, Muntau A, Belanger-Quintana A, Burlina A, Demirkol M, Giovannini M, Gasteyger C
EUR J PEDIATR. 2015;174(1):119-127.

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11
Varga R, Khundadze M, Damme M, Nietzsche S, Hoffmann B, Stauber T, Koch N, Hennings C, Franzka P, Huebner A, Kessels M, Biskup C, Jentsch T, Qualmann B, Braulke T, Kurth I, Beetz C, Hübner C
PLOS GENET. 2015;11 (8):e1005454; 1-20.

Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site
Velho R, De Pace R, Klünder S, Sperb-Ludwig F, Lourenço C, Schwartz I, Braulke T, Pohl S
HUM MOL GENET. 2015;24(12):3497–3505.

Bispectral index and lower margin amplitude of the amplitude-integrated electroencephalogram in neonates
Werther T, Olischar M, Giordano V, Czaba C, Waldhoer T, Berger A, Pollak A, Deindl P
NEONATOLOGY. 2015;107(1):34-41.

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome
Wortmann S, van Hasselt P, Barić I, Burlina A, Darin N, Hörster F, Coker M, Ucar S, Krumina Z, Naess K, Ngu L, Pronicka E, Riordan G, Santer R, Wassmer E, Zschocke J, Schiff M, de Meirleir L, Alowain M, Smeitink J, Morava E, Kozicz T, Wevers R, Wolf N, Willemsen M
NEUROPEDIATRICS. 2015;46(2):98-103.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
Wortmann S, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack T, Gersting S, Muntau A, Rakovic A, Renkema G, Rodenburg R, Strom T, Meitinger T, Rubio-Gozalbo M, Chrusciel E, Distelmaier F, Golzio C, Jansen J, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink J, Vaz F, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen M, de Brouwer A, Prokisch H, Katsanis N, Wevers R
AM J HUM GENET. 2015;96(2):245-57.

Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant
Albers K, Schlein C, Wenner K, Lohse P, Bartelt A, Heeren J, Santer R, Merkel M
ATHEROSCLEROSIS. 2014;233(1):97-103.

Long survival in Leigh Syndrome: new cases and review of literature
Aulbert W, Weigt-Usinger K, Thiels C, Köhler C, Vorgerd M, Schreiner A, Hoffjan S, Rothoeft T, Wortmann S, Heyer C, Podskarbi T, Lücke T
NEUROPEDIATRICS. 2014;45(6):346-53.

An interactive network of elastase, secretases, and PAR-2 protein regulates CXCR1 receptor surface expression on neutrophils
Bakele M, Lotz-Havla A, Jakowetz A, Carevic M, Marcos V, Muntau A, Gersting S, Hartl D
J BIOL CHEM. 2014;289(30):20516-25.

Inhibition of cellular methyltransferases promotes endothelial cell activation by suppressing glutathione peroxidase 1 protein expression
Barroso M, Florindo C, Kalwa H, Silva Z, Turanov A, Carlson B, de Almeida I, Blom H, Gladyshev V, Hatfield D, Michel T, Castro R, Loscalzo J, Handy D
J BIOL CHEM. 2014;289(22):15350-62.

CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals
Barvencik F, Kurth I, Koehne T, Stauber T, Zustin J, Tsiakas K, Ludwig C, Beil F, Pestka J, Hahn M, Santer R, Supanchart C, Kornak U, Del Fattore A, Jentsch T, Teti A, Schulz A, Schinke T, Amling M
J BONE MINER RES. 2014;29(4):982-91.

Neurological involvement in children with E. coli O104:H4-induced hemolytic uremic syndrome
Bauer A, Loos S, Wehrmann C, Horstmann D, Donnerstag F, Lemke J, Hillebrand G, Löbel U, Pape L, Haffner D, Bindt C, Ahlenstiel T, Melk A, Lehnhardt A, Kemper M, Oh J, Hartmann H
PEDIATR NEPHROL. 2014;29(9):1607-1615.

Alterations in the Ubiquitin Proteasome System in Persistent but Not Reversible Proteinuric Diseases
Beeken M, Lindenmeyer M, Blattner S, Radón V, Oh J, Meyer T, Hildebrand D, Schlüter H, Reinicke-Vogt A, Knop J, Vivekanandan-Giri A, Münster S, Sachs M, Wiech T, Pennathur S, Cohen C, Kretzler M, Stahl R, Meyer-Schwesinger C
J AM SOC NEPHROL. 2014;25(11):2511-25.

High vaccination rate is crucial
Blohm M, Klinkenberg D
DTSCH ARZTEBL INT. 2014;111(9):150.

Impedance cardiography (electrical velocimetry) and transthoracic echocardiography for non-invasive cardiac output monitoring in pediatric intensive care patients: a prospective single-center observational study
Blohm M, Obrecht D, Hartwich J, Müller G, Kersten J, Weil J, Singer D
CRIT CARE. 2014;18(6):603.

Effect of cerebral circulatory arrest on cerebral near-infrared spectroscopy in pediatric patients
Blohm M, Obrecht D, Hartwich J, Singer D
PEDIATR ANESTH. 2014;24(4):393-9.

Hemophagocytic lymphohistiocytosis in imported pediatric visceral leishmaniasis in a nonendemic area
Bode S, Bogdan C, Beutel K, Behnisch W, Greiner J, Henning S, Jorch N, Jankofsky M, Jakob M, Schmid I, Veelken N, Vraetz T, Janka G, Ehl S, Lehmberg K
J PEDIATR-US. 2014;165(1):147-153.e1.

An anorexic girl with severe peripheral vasospasm
Breuer C, Fisch-Kohl C, Kemper M, Debus E, Atlihan G
J PEDIATR-US. 2014;164(1):201-2.

Co-incident BK and Epstein-Barr virus replication in a 3-year-old immunocompetent boy
Breuer C, Hinsch A, Hiort J, Oh J, Hirsch H, Dalquen P
CLIN NEPHROL. 2014;82(4):278-282.

Organtransplantation bei Patienten mit primärer Hyperoxalurie
Brinkert F, Kemper M
NEPHROLOGE. 2014;9:222-227.

Ambient-und Biomonitoring nach Quecksilberintoxikation
Budnik L, Hermann K, Preisser A, Nordholt G, Harth V, Mühlhausen C
2014. Deutsche Gesellschaft für Arbeitsmedizin und Umweltmedizin e.V.. 1. Aufl. ecomed Medizin, Verlagsgruppe Hüthig Jehle Rehm GmbH, 76.

Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis
Cobos P, Steglich C, Santer R, Lukacs Z, Gal A
JIMD reports. 2014.

Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease
Damme M, Brandenstein L, Fehr S, Jankowiak W, Bartsch U, Schweizer M, Hermans-Borgmeyer I, Storch S
NEUROBIOL DIS. 2014;65:12-24.

Mice over-expressing human erythropoietin indicate that erythropoietin enhances expression of its receptor via up-regulated Gata1 and Tal1
Deindl P, Klar M, Drews D, Cremer M, Gammella E, Gassmann M, Dame C
HAEMATOLOGICA. 2014;99(10):e205-7.

Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)
De Pace R, Coutinho M, Nolte F, Haag F, Prata M, Alves S, Braulke T, Pohl S
HUM MUTAT. 2014;35(3):368-76.

Protection of human podocytes from shiga toxin 2-induced phosphorylation of mitogen-activated protein kinases and apoptosis by human serum amyloid P component
Dettmar A, Binder E, Greiner F, Liebau M, Kurschat C, Jungraithmayr T, Saleem M, Schmitt C, Feifel E, Orth-Höller D, Kemper M, Pepys M, Würzner R, Oh J
INFECT IMMUN. 2014;82(5):1872-9.

Geographically weighted regression of land cover determinants of Plasmodium falciparum transmission in the Ashanti Region of Ghana
Ehlkes L, Krefis A, Kreuels B, Krumkamp R, Adjei O, Ayim-Akonor M, Kobbe R, Hahn A, Vinnemeier C, Loag W, Schickhoff U, May J
INT J HEALTH GEOGR. 2014;13:35.

Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases
Feillet F, Muntau A, Debray F, Lotz-Havla A, Puchwein-Schwepcke A, Fofou-Caillierez M, van Spronsen F, Trefz F
J INHERIT METAB DIS. 2014;37(5):753-62.

Nectin-4 Mutations Causing Ectodermal Dysplasia with Syndactyly Perturb the Rac1 Pathway and the Kinetics of Adherens Junction Formation
Fortugno P, Josselin E, Tsiakas K, Agolini E, Cestra G, Teson M, Santer R, Castiglia D, Novelli G, Dallapiccola B, Kurth I, Lopez M, Zambruno G, Brancati F
J INVEST DERMATOL. 2014;134(8):2146-2153.

Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: A novel syndrome?
Ganos C, Biskup S, Krüger S, Meyer-Osores A, Hodecker S, Hagel C, Schöls L, Bhatia K, Münchau A
PARKINSONISM RELAT D. 2014;20(3):328-31.

Wärmehaushalt und Temperaturregulation
Gekle M, Singer D
2014. Physiologie. Pape H, Kurtz A, Silbernagl S (Hrsg.). 7. Aufl. Stuttgart: Georg Thieme Verlag KG, 566-584.

The effect of intra- and postoperative allogenic blood transfusion on patients' survival undergoing radical cystectomy for urothelial carcinoma of the bladder
Gierth M, Aziz A, Fritsche H, Burger M, Otto W, Zeman F, Pawlik M, Hansen E, May M, Denzinger S
WORLD J UROL. 2014;32(6):1447-53.

The Neonatal Pain, Agitation and Sedation Scale reliably detected oversedation but failed to differentiate between other sedation levels
Giordano V, Deindl P, Kuttner S, Waldhör T, Berger A, Olischar M
ACTA PAEDIATR. 2014;103(12):e515-21.

Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature
Grabhorn E, Tsiakas K, Herden U, Fischer L, Freisinger P, Marquardt T, Ganschow R, Briem-Richter A, Santer R
LIVER TRANSPLANT. 2014;20(4):464-72.

Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life
Gramer G, Haege G, Glahn E, Hoffmann G, Lindner M, Burgard P
J INHERIT METAB DIS. 2014;37(2):189-95.

Results of a patient-directed survey on frequency of family history of glaucoma in 2170 patients
Gramer G, Weber B, Gramer E
INVEST OPHTH VIS SCI. 2014;55(1):259-64.

Outcome of liver re-transplantation in children-Impact and special analysis of early re-transplantation
Herden U, Ganschow R, Grabhorn E, Briem-Richter A, Nashan B, Fischer L
PEDIATR TRANSPLANT. 2014;18(4):377-84.

Developments in pediatric liver transplantation since implementation of the new allocation rules in Eurotransplant
Herden U, Grabhorn E, Briem-Richter A, Ganschow R, Nashan B, Fischer L
CLIN TRANSPLANT. 2014;28(9):1061-8.

The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase
Jank J, Maier E, Reiβ D, Haslbeck M, Kemter K, Truger M, Sommerhoff C, Ferdinandusse S, Wanders R, Gersting S, Muntau A
PLOS ONE. 2014;9(4):e93852.

Uni- and crossmodal refractory period effects of event-related potentials provide insights into the development of multisensory processing
Johannsen J, Röder B
FRONT HUM NEUROSCI. 2014;8:552.

Family strain and its relation to psychosocial dysfunction in children and adolescents after liver transplantation
Kaller T, Petersen I, Petermann F, Fischer L, Grabhorn E, Schulz K
PEDIATR TRANSPLANT. 2014;18(8):851-9.

Neonatale Stoffwechselentgleisung: Hyperventilation bei Hyperammoniämie
Kehl T, Tsiakas K, Mühlhausen C, Santer R, C W, Dr. von der Wense A, Singer D
Z GEBURTSH NEONATOL. 2014;218(06):269-270.

Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort
Kehrer C, Groeschel S, Kustermann-Kuhn B, Bürger F, Köhler W, Kohlschütter A, Bley A, Steinfeld R, Gieselmann V, Krägeloh-Mann I
ORPHANET J RARE DIS. 2014;9:18.

Renal osteodystrophy in children: pathogenesis, diagnosis and treatment
Kemper M, Van Husen M
CURR OPIN PEDIATR. 2014;26(2):180-186.

Epilepsy in Neuronal Ceroid Lipofuscinoses (NCL)
Kohlschütter A, Schulz A, Denecke J
J Pediatr Epilepsy. 2014;3:199-206.

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series
Lampe C, Bosserhoff A, Burton B, Giugliani R, de Souza C, Bittar C, Muschol N, Olson R, Mendelsohn N
J INHERIT METAB DIS. 2014;37(5):823-829.

Myeloperoxidase deficiency ameliorates progression of chronic kidney disease in mice
Lehners A, Lange S, Niemann G, Rosendahl A, Meyer-Schwesinger C, Oh J, Stahl R, Ehmke H, Benndorf R, Klinke A, Baldus S, Wenzel U
AM J PHYSIOL-RENAL. 2014;307(4):F407-17.

Therapie des hämolytisch-urämischen Syndroms
Lemke J, Kemper M, Loos S
Päd Praxis. 2014;83(1):103-111.

Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study
Leuders S, Wolfgart E, Ott T, du Moulin M, van Teeffelen-Heithoff A, Vogelpohl L, Och U, Marquardt T, Weglage J, Feldmann R, Rutsch F
JIMD reports. 2014;13:101-9.

Genotype-phenotype associations in WT1 glomerulopathy
Lipska B, Ranchin B, Iatropoulos P, Gellermann J, Melk A, Ozaltin F, Caridi G, Seeman T, Tory K, Jankauskiene A, Zurowska A, Szczepanska M, Wasilewska A, Harambat J, Trautmann A, Peco-Antic A, Borzecka H, Moczulska A, Saeed B, Bogdanovic R, Kalyoncu M, Simkova E, Erdogan O, Vrljicak K, Teixeira A, Azocar M, Schaefer F
KIDNEY INT. 2014;85(5):1169-78.

Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy
Löbel U, Schweser F, Nickel M, Deistung A, Grosse R, Hagel C, Fiehler J, Schulz A, Hartig M, Reichenbach J, Kohlschütter A, Sedlacik J
ANN CLIN TRANSL NEUR. 2014;1(12):1041-6.

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Mayorandan S, Meyer U, Gokcay G, Segarra N, de Baulny H, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla A, Cocho de Juan J, Couce Pico M, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud Y, Freisinger P, Aldamiz-Echevarria L, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das A
ORPHANET J RARE DIS. 2014;9:107.

Cardiac arrhythmia induced by genetic silencing of 'funny' (f) channels is rescued by GIRK4 inactivation
Mesirca P, Alig J, Torrente A, Müller J, Marger L, Rollin A, Marquilly C, Vincent A, Dubel S, Bidaud I, Fernandez A, Seniuk A, Engeland B, Singh J, Miquerol L, Ehmke H, Eschenhagen T, Nargeot J, Wickman K, Isbrandt D, Mangoni M
NAT COMMUN. 2014;5:4664.

Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment
Mühlhausen C, Salomons G, Lukacs Z, Struys E, van der Knaap M, Ullrich K, Santer R
J INHERIT METAB DIS. 2014;37(5):775-781.

Angeborene Störungen des Kohlenhydratstoffwechsels und sonstige angeborene Stoffwechselstörungen
Muntau A
2014. Therapie der Krankheiten im Kindes- und Jugendalter. Reinhardt D, Nicolai T, Zimmer K (Hrsg.). 9. Aufl. Berlin Heidelberg: Springer, 117-132.

Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators
Muntau A, Leandro J, Staudigl M, Mayer F, Gersting S
J INHERIT METAB DIS. 2014;37(4):505-23.

Neurometabolische und Neurodegenerative Krankheiten: Mukopolysaccharidosen (MPS)
Muschol N
2014. Neuropädiatrie: Evidenzbasierte Therapie. Korinthenberg R, Panteliadis C, Hagel C (Hrsg.). 2. Aufl. München: Urban & Fischer, .

Unexplained Loss of Vision in a Child:: Consider Bilateral Primary Optic Nerve Sheath Meningioma
Nickel M, Löbel U, Holst B, Kammler G, Matschke J, Schulz A, Kohlschütter A
NEUROPEDIATRICS. 2014;45(5):321-4.

CTLA4 Polymorphisms in Minimal Change Nephrotic Syndrome in Children: A Case-Control Study
Ohl K, Eberhardt C, Spink C, Zahn K, Wagner N, Eggermann T, Kemper M, Querfeld U, Hoppe B, Harendza S, Tenbrock K
AM J KIDNEY DIS. 2014;63(6):1074-5.

Hypomyelinating leukodystrophies: translational research progress and prospects
Pouwels P, Vanderver A, Bernard G, Wolf N, Dreha-Kulczewksi S, Deoni S, Bertini E, Kohlschütter A, Richardson W, Ffrench-Constant C, Köhler W, Rowitch D, Barkovich A
ANN NEUROL. 2014;76(1):5-19.

Sexualfunktionen, Schwangerschaft und Geburt
Rieger L, Kämmerer U, Singer D
2014. Physiologie. Pape H, A, S (Hrsg.). 7. Aufl. Stuttgart: Georg Thieme Verlag KG, 635-670.

Rad50-CARD9 interactions link cytosolic DNA sensing to IL-1β production
Roth S, Rottach A, Lotz-Havla A, Laux V, Muschaweckh A, Gersting S, Muntau A, Hopfner K, Jin L, Vanness K, Petrini J, Drexler I, Leonhardt H, Ruland J
NAT IMMUNOL. 2014;15(6):538-45.

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
Rüegger C, Lindner M, Ballhausen D, Baumgartner M, Beblo S, Das A, Gautschi M, Glahn E, Grünert S, Hennermann J, Hochuli M, Huemer M, Karall D, Kölker S, Lachmann R, Lotz-Havla A, Möslinger D, Nuoffer J, Plecko B, Rutsch F, Santer R, Spiekerkoetter U, Staufner C, Stricker T, Wijburg F, Williams M, Burgard P, Häberle J
J INHERIT METAB DIS. 2014;37(1):21-30.

Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins
Schmiesing J, Schlüter H, Ullrich K, Braulke T, Mühlhausen C
PLOS ONE. 2014;9(2):e87715.

Quantification of prenatal liver and spleen iron in a sheep model and assessment of iron stores in a human neonate with neonatal hemochromatosis using R2* mapping
Schoennagel B, Remus C, Wedegärtner U, Salzmann I, Grabhorn E, Adam G, Fischer R, Harmatz P, Kooijman H, Yamamura J
MAGN RESON MED. 2014;13(3):167-173.

Lysine glutarylation is a protein posttranslational modification regulated by SIRT5
Tan M, Peng C, Anderson K, Chhoy P, Xie Z, Dai L, Park J, Chen Y, Huang H, Zhang Y, Ro J, Wagner G, Green M, Madsen A, Schmiesing J, Peterson B, Xu G, Ilkayeva O, Muehlbauer M, Braulke T, Mühlhausen C, Backos D, Olsen C, McGuire P, Pletcher S, Lombard D, Hirschey M, Zhao Y
CELL METAB. 2014;19(4):605-17.

Stable isotope dilution microquantification of creatine metabolites in plasma, whole blood and dried blood spots for pharmacological studies in mouse models of creatine deficiency
Tran C, Yazdanpanah M, Kyriakopoulou L, Levandovskiy V, Zahid H, Naufer A, Isbrandt D, Schulze A
CLIN CHIM ACTA. 2014;436:160-8.

Neonatale Erstversorgung - "Atypische Intubation" bei Trachealagenesie
Wolf M, Klaassen I, Reinshagen K, Herrmann J, Singer D
Z GEBURTSH NEONATOL. 2014;218(2):87-8.

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
Wolf N, Vanderver A, van Spaendonk R, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros J, Pinto P, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap M, Bernard G
NEUROLOGY. 2014;83(21):1898-905.

Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency
Afroze B, Yunus Z, Steinmann B, Santer R
EUR J PEDIATR. 2013;172(9):1249-53.

Hypereosinophiles Syndrom (HES) nach Lebertransplantation
Aulbert W, Breuer C, Oh J, Briem-Richter A, Kobbe R, Ganschow R
2013. Monatszeitschrift Kinderheilkunde. Supplement 2. Aufl. Springer, 95-256.

Cellular hypomethylation promotes endothelial cell activation
Barroso M, Florindo C, Tavares de Almeida I, Castro R, Loscalzo J, Brigham C
J INHERIT METAB DIS. 2013;36(1 Supplement):.

Apoptotic photoreceptor loss and altered expression of lysosomal proteins in the nclf mouse model of neuronal ceroid lipofuscinosis
Bartsch U, Galliciotti G, Jofre G, Jankowiak W, Hagel C, Braulke T
INVEST OPHTH VIS SCI. 2013;54(10):6952-9.

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies
Beck B, Baasner A, Buescher A, Habbig S, Reintjes N, Kemper M, Sikora P, Mache C, Pohl M, Stahl M, Toenshoff B, Pape L, Fehrenbach H, Jacob D, Grohe B, Wolf M, Nürnberg G, Yigit G, Salido E, Hoppe B
EUR J HUM GENET. 2013;21(2):162-72.

Concomitant bilateral adnexal entanglement in a 7-year-old girl with precocious puberty
Boettcher M, Kanellos-Becker I, Akkurt I, Reinshagen K
INT J GYNECOL OBSTET. 2013;123(3):248-9.

Management of anemia in children receiving chronic peritoneal dialysis
Borzych-Duzalka D, Bilginer Y, Ha I, Bak M, Rees L, Cano F, Munarriz R, Chua A, Pesle S, Emre S, Urzykowska A, Quiroz L, Ruscasso J, White C, Pape L, Ramela V, Printza N, Vogel A, Kuzmanovska D, Simkova E, Müller-Wiefel D, Sander A, Warady B, Schaefer F
J AM SOC NEPHROL. 2013;24(4):665-76.

Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.
Boy N, Haege G, Heringer J, Assmann B, Mühlhausen C, Ensenauer R, Maier E, Lücke T, Hoffmann G, Müller E, Burgard P, Kölker S
J INHERIT METAB DIS. 2013;36(3):525-533.

I-cell disease and Pseudo-Hurler Polydystrophy: Disorders of lysosomal enzyme phosphorylation and localization
Braulke T, Raas-Rothschild A, Kornfeld S
2013. The Online Metabolic & Molecular Bases of Inherited Disease,. New York: McGraw-Hill, New York, .

Quantitative t2 measurements in juvenile and late infantile neuronal ceroid lipofuscinosis.
Bravo A, Forkert N, Schulz A, Löbel U, Fiehler J, Ding X, Sedlacik J, Rosenkranz M, Goebell E
CLIN NEURORADIOL. 2013;23(3):189-196.

Liver allograft pathology in healthy pediatric liver transplant recipients
Briem-Richter A, Ganschow R, Sornsakrin M, Brinkert F, Schirmer J, Schäfer H, Grabhorn E
PEDIATR TRANSPLANT. 2013;17(6):543-9.

Cytokine concentrations and regulatory T cells in living donor and deceased donor liver transplant recipients
Briem-Richter A, Leuschner A, Haag F, Grabhorn E, Ganschow R
PEDIATR TRANSPLANT. 2013;17(2):185-90.

Peripheral blood biomarkers for the characterization of alloimmune reactivity after pediatric liver transplantation
Briem-Richter A, Leuschner A, Krieger T, Grabhorn E, Fischer L, Nashan B, Haag F, Ganschow R
PEDIATR TRANSPLANT. 2013;17(8):757-64.

Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome.
Brinkert F, Lehnhardt A, Montoya C, Helmke K, Schäfer H, Fischer L, Nashan B, Bergmann C, Ganschow R, Kemper M
TRANSPL INT. 2013;26(6):640-650.

Pseudotumor cerebri bei einem 8 Monate alten Säugling
Brückner F, Kohl B, Tholen P, Bauer A, Mühlhausen C, Tibussek D, Püst B
Päd Praxis. 2013;80(2):217-221.

Homoarginine levels are regulated by L-arginine:glycine amidinotransferase and affect stroke outcome: results from human and murine studies
Choe C, Atzler D, Wild P, Carter A, Böger R, Ojeda Echevarria F, Simova O, Stockebrand M, Lackner K, Nabuurs C, Marescau B, Streichert T, Müller C, Lüneburg N, De Deyn P, Benndorf R, Baldus S, Gerloff C, Blankenberg S, Heerschap A, Grant P, Magnus T, Zeller T, Isbrandt D, Schwedhelm E
CIRCULATION. 2013;128(13):1451-61.

L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.
Choe C, Nabuurs C, Stockebrand M, Neu A, Nunes P, Morellini F, Sauter K, Schillemeit S, Hermans-Borgmeyer I, Marescau B, Heerschap A, Isbrandt D
HUM MOL GENET. 2013;22(1):110-123.

Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes
Cleary M, Trefz F, Muntau A, Feillet F, van Spronsen F, Burlina A, Bélanger-Quintana A, Giżewska M, Gasteyger C, Bettiol E, Blau N, MacDonald A
MOL GENET METAB. 2013;110(4):418-23.

Development of a mnemonic screening tool for identifying subjects with Hunter syndrome
Cohn G, Morin I, Whiteman D
EUR J PEDIATR. 2013;172(7):965-70.

Testing for hyperhomocysteinemia in subjects with a history of thromboembolic events using HPLC technique
Denecke J
2013. Haemostasis. 1. Aufl. Springer, 383-386.

Fehlbildungen der Niere und ableitenden Harnwege – Autosomal-rezessive polyzystische Nierenerkrankung (ARPKD)
Diemert A, Klaassen I, Kemper M, Hecher K, Singer D
Z GEBURTSH NEONATOL. 2013;217(2):46-9.

Human factor H-related protein 2 (CFHR2) regulates complement activation
Eberhardt H, Buhlmann D, Hortschansky P, Chen Q, Böhm S, Kemper M, Wallich R, Hartmann A, Hallström T, Zipfel P, Skerka C
PLOS ONE. 2013;8(11):e78617.

β1 integrin signaling maintains human epithelial progenitor cell survival in situ and controls proliferation, apoptosis and migration of their progeny
Ernst N, Yay A, Bíró T, Tiede S, Humphries M, Paus R, Kloepper J
PLOS ONE. 2013;8(12):e84356.

Protein arginine methylation is more prone to inhibition by S-adenosylhomocysteine than DNA methylation in vascular endothelial cells
Esse R, Rocha M, Barroso M, Florindo C, Teerlink T, Kok R, Smulders Y, Rivera I, Leandro P, Koolwijk P, Castro R, Blom H, de Almeida I
PLOS ONE. 2013;8(2):e55483.

Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif
Franke M, Braulke T, Storch S
J BIOL CHEM. 2013;288(2):1238-49.

Growing experience with mTOR inhibitors in pediatric solid organ transplantation
Ganschow R, Pape L, Sturm E, Bauer J, Melter M, Gerner P, Hoecker B, Ahlenstiel T, Kemper M, Brinkert F, Sachse M, Tönshoff B
PEDIATR TRANSPLANT. 2013;17(7):694-706.

Successful outcome of severe Amanita phalloides poisoning in children
Grabhorn E, Nielsen D, Hillebrand G, Brinkert F, Herden U, Fischer L, Ganschow R
PEDIATR TRANSPLANT. 2013;17(6):550-5.

Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses
Gramer G, Förl B, Springer C, Weimer P, Haege G, Mackensen F, Müller E, Völcker H, Hoffmann G, Lindner M, Krastel H, Burgard P
MOL GENET METAB. 2013;108(1):1-7.

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
Grünert S, Müllerleile S, De Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer O, Baumgartner M, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann J, Steinfeld R, Beblo S, Koch H, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Sperl W, Kraus J, Superti-Furga A, Schwab K, Sass J
ORPHANET J RARE DIS. 2013;8:6.

A formula to calculate the standard liver volume in children and its application in pediatric liver transplantation
Herden U, Wischhusen F, Heinemann A, Ganschow R, Grabhorn E, Vettorazzi E, Nashan B, Fischer L
TRANSPL INT. 2013;26(12):1217-24.

Transcapsular arterial neovascularization of liver transplants increases the risk of intraoperative bleeding during retransplantation.
Herrmann J, Herden U, Ganschow R, Petersen K, Schmid F, Derlin T, Koops A, Peine S, Sterneck M, Fischer L, Helmke K
TRANSPL INT. 2013;26(4):419-427.

Seltene Fehlbildung der Anogenitalregion – Fetale Enterolithiasis als Vorbote einer Penisagenesie
Hillebrand G, Glosemeyer P, Helmke K, Singer D
Z GEBURTSH NEONATOL. 2013;217:72-73.

Aktuelle Ergebnisse notfallmedizinischer Forschung 2012/2013
Hinkelbein J, Braunecker S, Singer D, Thiele H, Böttiger B
Notfallmedizin up2date. 2013;8:317-335.

Epidemiology and morbidity of Epstein-Barr virus infection in pediatric renal transplant recipients: a multicenter, prospective study
Höcker B, Fickenscher H, Delecluse H, Böhm S, Küsters U, Schnitzler P, Pohl M, John U, Kemper M, Fehrenbach H, Wigger M, Holder M, Schröder M, Billing H, Fichtner A, Feneberg R, Sander A, Köpf-Shakib S, Süsal C, Tönshoff B
CLIN INFECT DIS. 2013;56(1):84-92.

Establishment of the first newborn screening program in the People's Democratic Republic of Laos.
Hoehn T, Lukacs Z, Stehn M, Mayatepek E, Philavanh K, Bounnack S
J TROP PEDIATRICS. 2013;59(2):95-99.

Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome.
Hofer J, Janecke A, Zimmerhackl L, Riedl M, Rosales A, Giner T, Cortina G, Haindl C, Petzelberger B, Pawlik M, Jeller V, Vester U, Gadner B, Van Husen M, Moritz M, Würzner R, Jungraithmayr T, Group G
CLIN J AM SOC NEPHRO. 2013;8(3):407-415.

Mass spectrometric analysis of neutral and anionic N-glycans from a Dictyostelium discoideum model for human congenital disorder of glycosylation CDG IL.
Hykollari A, Balog C, Rendić D, Braulke T, Wilson I, Paschinger K
J PROTEOME RES. 2013;12(3):1173-1187.

Protective effects of the mTOR inhibitor everolimus on cytoskeletal injury in human podocytes are mediated by RhoA signaling
Jeruschke S, Büscher A, Oh J, Saleem M, Hoyer P, Weber S, Nalbant P
PLOS ONE. 2013;8(2):e55980.

The effect of idursulfase on growth in patients with Hunter Syndrome: data from the Hunter Outcome Survey (HOS)
Jones S, Parini R, Harmatz P, Giugliani R, Fang J, Mendelsohn N
MOL GENET METAB. 2013;109(1):41-8.

Cognitive performance in pediatric liver transplant recipients
Kaller T, Langguth N, Petermann F, Ganschow R, Nashan B, Schulz K
AM J TRANSPLANT. 2013;13(11):2956-65.

Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study
Keil S, Anjema K, van Spronsen F, Lambruschini N, Burlina A, Bélanger-Quintana A, Couce M, Feillet F, Cerone R, Lotz-Havla A, Muntau A, Bosch A, Meli C, Billette de Villemeur T, Kern I, Riva E, Giovannini M, Damaj L, Leuzzi V, Blau N
PEDIATRICS. 2013;131(6):e1881-8.

Is rituximab effective in childhood nephrotic syndrome? Yes and no
Kemper M, Lehnhardt A, Zawischa A, Oh J
PEDIATR NEPHROL. 2013.

Transmission of glomerular permeability factor soluble urokinase plasminogen activator receptor (suPAR) from a mother to child.
Kemper M, Wei C, Reiser J
AM J KIDNEY DIS. 2013;61(2):352.

A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system
Khundadze M, Kollmann K, Koch N, Biskup C, Nietzsche S, Zimmer G, Hennings J, Huebner A, Symmank J, Jahic A, Ilina E, Karle K, Schöls L, Kessels M, Braulke T, Qualmann B, Kurth I, Beetz C, Hübner C
PLOS GENET. 2013;9(12):e1003988.

Isogeneic MSC application in a rat model of acute renal allograft rejection modulates immune response but does not prolong allograft survival
Koch M, Lehnhardt A, Hu X, Brunswig-Spickenheier B, Stolk M, Bröcker V, Noriega M, Seifert M, Lange C
TRANSPL IMMUNOL. 2013;29(1-4):43-50.

Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy
Kohlschütter A
2013. Handbook of Clinical Neurology. Dulac O, Lassonde M, Sarnat H (Hrsg.). 1. Aufl. 1611-8.

Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II
Kollmann K, Pestka J, Kühn S, Schöne E, Schweizer M, Karkmann K, Otomo T, Catala-Lehnen P, Failla A, Marshall R, Krause M, Santer R, Amling M, Braulke T, Schinke T
EMBO MOL MED. 2013;5(12):1871-86.

Cell biology and function of neuronal ceroid lipofuscinosis-related proteins
Kollmann K, Uusi-Rauva K, Scifo E, Tyynelä J, Jalanko A, Braulke T
BBA-MOL BASIS DIS. 2013;1832(11):1866-81.

Gender differences in solitary functioning kidney: do they affect renal outcome? Response
Kummer S, Oh J
PEDIATR NEPHROL. 2013.

Genetic screening in adolescents with steroid-resistant nephrotic syndrome
Lipska B, Iatropoulos P, Maranta R, Caridi G, Ozaltin F, Anarat A, Balat A, Gellermann J, Trautmann A, Erdogan O, Saeed B, Emre S, Bogdanovic R, Azocar M, Balasz-Chmielewska I, Benetti E, Caliskan S, Mir S, Melk A, Ertan P, Baskin E, Jardim H, Davitaia T, Wasilewska A, Drozdz D, Szczepanska M, Jankauskiene A, Higuita L, Ardissino G, Ozkaya O, Kuzma-Mroczkowska E, Soylemezoglu O, Ranchin B, Medynska A, Tkaczyk M, Peco-Antic A, Akil I, Jarmolinski T, Firszt-Adamczyk A, Dusek J, Simonetti G, Gok F, Gheissari A, Emma F, Krmar R, Fischbach M, Printza N, Simkova E, Mele C, Ghiggeri G, Schaefer F
KIDNEY INT. 2013;84(1):206-13.

Das Hämolytisch Urämische Syndrom im Kindesalter
Loos S, Oh J, Kemper M
NIEREN HOCHDRUCK. 2013;42(3):126-133.

Peripartale Kardiomyopathie: Interdisziplinäre Herausforderung
Löser B, Tank S, Hillebrand G, Goldmann B, Diehl W, Biermann D, Schirmer J, Reuter D
ANAESTHESIST. 2013;62(5):343-54.

What are effects of a spaced activation of virtual patients in a pediatric course?
Maier E, Hege I, Muntau A, Huber J, Fischer M
BMC MED EDUC. 2013;13:45.

Spatial memory tasks in rodents: what do they model?
Morellini F
CELL TISSUE RES. 2013;354(1):273-86.

Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake.
Nabuurs C, Choe C, Veltien A, Kan H, van Loon L, Rodenburg R, Matschke J, Wieringa B, Kemp G, Isbrandt D, Heerschap A
J PHYSIOL-LONDON. 2013;591(Pt 2):571-592.

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria
Nota B, Struys E, Pop A, Jansen E, Fernandez Ojeda M, Kanhai W, Kranendijk M, van Dooren S, Bevova M, Sistermans E, Nieuwint A, Barth M, Ben-Omran T, Hoffmann G, de Lonlay P, McDonald M, Meberg A, Muntau A, Nuoffer J, Parini R, Read M, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap M, Jakobs C, Salomons G
AM J HUM GENET. 2013;92(4):627-31.

Long-term neurodevelopmental outcome with hypoxic-ischemic encephalopathy
Perez A, Ritter S, Brotschi B, Werner H, Caflisch J, Martin E, Latal B
J PEDIATR-US. 2013;454-9.

Characteristic congenital reticular erythema: cutis marmorata telangiectatica congenita
Pleimes M, Göttler S, Weibel L
J PEDIATR-US. 2013;163(2):604-604.e1.

Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies
Preisler N, Lukacs Z, Vinge L, Madsen K, Husu E, Hansen R, Duno M, Andersen H, Laub M, Vissing J
MOL GENET METAB. 2013;110(3):287-9.

Postnatal disruption of the disintegrin/metalloproteinase ADAM10 in brain causes epileptic seizures, learning deficits, altered spine morphology, and defective synaptic functions
Prox J, Bernreuther C, Altmeppen H, Grendel J, Glatzel M, D'Hooge R, Stroobants S, Ahmed T, Balschun D, Willem M, Lammich S, Isbrandt D, Schweizer M, Horré K, De Strooper B, Saftig P
J NEUROSCI. 2013;33(32):12915-28, 12928a.

Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia.
Schild R, Knüppel T, Konrad M, Bergmann C, Trautmann A, Kemper M, Wu K, Yaklichkin S, Wang J, Pestell R, Müller-Wiefel D, Schaefer F, Weber S
NEPHROL DIAL TRANSPL. 2013;28(1):227-232.

Komplexe gastrointestinale Fehlbildung – Kombinierte Ösophagus- und Duodenalatresie
Schmidtke S, Diehl W, Herrmann J, Bergholz R, Singer D
Z GEBURTSH NEONATOL. 2013;217(4):147-8.

Effect of the dialysis fluid buffer on peritoneal membrane function in children
Schmitt C, Nau B, Gemulla G, Bonzel K, Hölttä T, Testa S, Fischbach M, John U, Kemper M, Sander A, Arbeiter K, Schaefer F
CLIN J AM SOC NEPHRO. 2013;8(1):108-115.

NCL Disorders: Frequent Causes of Childhood Dementia
Schulz A, Kohlschütter A
IRAN J CHILD NEUROL. 2013;7(1):1-8.

NCL diseases - clinical perspectives
Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R
BBA-MOL BASIS DIS. 2013;1832(11):1801-6.

Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice
Schweizer M, Markmann S, Braulke T, Kollmann K
ULTRASTRUCT PATHOL. 2013;37(5):366-72.

Adenosine receptor antagonists including caffeine alter fetal brain development in mice
Silva C, Métin C, Fazeli W, Machado N, Darmopil S, Launay P, Ghestem A, Nesa M, Bassot E, Szabó E, Baqi Y, Müller C, Tomé A, Ivanov A, Isbrandt D, Zilberter Y, Cunha R, Esclapez M, Bernard C
SCI TRANSL MED. 2013;5(197):197ra104.

Pädiatrische Notfälle
Singer D
2013. Notfallmedizin. Scholz J, Sefrin P, Böttiger B, Dörges V, Wenzel V (Hrsg.). 3.. Aufl. Stuttgart: Georg Thieme Verlag KG, 359-387.

Physiology and Pathophysiology of Thermoregulation in the Neonate
Singer D
BIOMED ENG-BIOMED TE. 2013.

Differential regulation of AMPK activation in leptin- and creatine-deficient mice
Stockebrand M, Sauter K, Neu A, Isbrandt D, Choe C
FASEB J. 2013;27(10):4147-56.

Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1
Thies B, Meyer-Schwesinger C, Lamp J, Schweizer M, Koeller D, Ullrich K, Braulke T, Mühlhausen C
BBA-MOL BASIS DIS. 2013;1832(10):1463-72.

Hereditäre epileptische Enzephalopathie mit Amelogenesis imperfecta Kohlschütter-Tönz-Syndrom (KTZS) – Bericht über einen weiteren, postum erfassten Patienten aus der Zentralschweiz
Tönz O, Steiner B, Schossig A, Zschocke J, Kohlschütter A
Epileptologie. 2013;30:167-174.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
van de Kamp J, Betsalel O, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca M, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer H, Hofstede F, Johnson D, Kant S, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit J, Monteiro J, Munnich A, Muntau A, Nassogne M, Osaka H, Ounap K, Pinard J, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz C, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink M, Pouwels P, Errami A, van der Knaap M, Jakobs C, Mancini G, Salomons G
J MED GENET. 2013;50(7):463-72.

Diagnosis of Pompe disease: muscle biopsy vs blood-based assays
Vissing J, Lukacs Z, Straub V
JAMA NEUROL. 2013;70(7):923-7.

Ungewöhnlicher Haut- und Skelettbefund – Infantile Myofibromatose
Warlitz C, Kobbe R, Helmke K, Höger P, Singer D
Z GEBURTSH NEONATOL. 2013;217(3):112-3.

Diagnosing mucopolysaccharidosis IVA
Wood T, Harvey K, Beck M, Burin M, Chien Y, Church H, D'Almeida V, van Diggelen O, Fietz M, Giugliani R, Harmatz P, Hawley S, Hwu W, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson J, Tylee K, Yu C, Hendriksz C
J INHERIT METAB DIS. 2013;36(2):293-307.

Abatacept in B7-1-positive proteinuric kidney disease
Yu C, Fornoni A, Weins A, Hakroush S, Maiguel D, Sageshima J, Chen L, Ciancio G, Faridi M, Behr D, Campbell K, Chang J, Chen H, Oh J, Faul C, Arnaout M, Fiorina P, Gupta V, Greka A, Burke G, Mundel P
NEW ENGL J MED. 2013;369(25):2416-23.

Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients
Abicht A, Dusl M, Gallenmüller C, Guergueltcheva V, Schara U, Della Marina A, Wibbeler E, Almaras S, Mihaylova V, von der Hagen M, Huebner A, Chaouch A, Müller J, Lochmüller H
HUM MUTAT. 2012;33(10):1474-84.

Glyceroluria and neonatal hemochromatosis.
Barić I, Zibar K, Ćorić M, Santer R, Bonilla S, Bilić K, Buljević A, Benjak V, Fumić K, Whitington P
J PEDIATR GASTR NUTR. 2012;55(4):126-128.

Cellular hypomethylation is associated with impaired nitric oxide production by cultured human endothelial cells
Barroso M, Rocha M, Esse R, Gonçalves I, Gomes A, Teerlink T, Jakobs C, Blom H, Loscalzo J, Rivera I, de Almeida I, Castro R
AMINO ACIDS. 2012;42(5):1903-11.

Liver cell transplantation in severe infantile oxalosis--a potential bridging procedure to orthotopic liver transplantation?
Beck B, Habbig S, Dittrich K, Stippel D, Kaul I, Koerber F, Goebel H, Salido E, Kemper M, Meyburg J, Hoppe B
NEPHROL DIAL TRANSPL. 2012;27(7):2984-2989.

Long-term diffusion impairment of cerebral white matter in a degenerative disease of the central and peripheral nervous system: reflection of chronic excitotoxicity?
Blum K, Hagel C, Neuen-Jacob E, Herkenrath P, Fiehler J, Kohlschütter A, Lanfermann H, Ding X
J CHILD NEUROL. 2012;27(2):229-233.

Schmerzmanagement bei Kindern in der Schweiz
Boettcher M, Göttler S
MONATSSCHR KINDERH. 2012;160(9):887-894.

Pancreatic carcinoma cell lines reflect frequency and variability of cancer stem cell markers in clinical tissue
Bünger S, Barow M, Thorns C, Freitag-Wolf S, Danner S, Tiede S, Pries R, Görg S, Bruch H, Roblick U, Kruse C, Habermann J
EUR SURG RES. 2012;49(2):88-98.

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
Cochat P, Hulton S, Acquaviva C, Danpure C, Daudon M, Mario D, Fargue S, Groothoff J, Harambat J, Hoppe B, Jamieson N, Kemper M, Mandrile G, Marangella M, Picca S, Rumsby G, Salido E, Straub M, Woerden v, Christiaan S, OxalEurope [
NEPHROL DIAL TRANSPL. 2012;27(5):1729-1736.

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
Coelho D, Kim J, Miousse I, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge E, Majewski J, Rosenblatt D, Fowler B, Rutsch F, Baumgartner M
NAT GENET. 2012;44(10):1152-5.

Long-term neuroimaging follow-up on an asymptomatic juvenile metachromatic leukodystrophy patient after hematopoietic stem cell transplantation: Evidence of myelin recovery and ongoing brain maturation.
Ding X, Bley A, Kohlschütter A, Fiehler J, Lanfermann H
AM J MED GENET A. 2012;158A(1):257-60.

Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: a multimodal MR study.
Ding X, Bley A, Ohlenbusch A, Kohlschütter A, Fiehler J, Zhu W, Lanfermann H
J MAGN RESON IMAGING. 2012;35(4):926-932.

Urinary proteome analysis to exclude severe vesicoureteral reflux.
Drube J, Schiffer E, Lau E, Petersen C, Kirschstein M, Kemper M, Lichtinghagen R, Ure B, Mischak H, Pape L, Ehrich J
PEDIATRICS. 2012;129(2):356-363.

Approach to the management of slipped capital femoral epiphysis and primary hyperparathyroidism
El Scheich T, Marquard J, Westhoff B, Schneider A, Cupisti K, Oh J, Meissner T, Mayatepek E, Klee D
J PEDIATR ENDOCR MET. 2012;25(3-4):239-44.

Bioluminescence resonance energy Transfer: an emerging tool for the detection of protein-protein interaction in living cells
Gersting S, Lotz-Havla A, Muntau A
Methods Mol Biol. 2012;815:253-63.

Glaucoma and frequency of ocular and general diseases in 30 patients with aniridia: a clinical study
Gramer E, Reiter C, Gramer G
EUR J OPHTHALMOL. 2012;22(1):104-10.

Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood
Gramer G, Wolf N, Vater D, Bast T, Santer R, Kamsteeg E, Wevers R, Ebinger F
NEUROPEDIATRICS. 2012;43(3):168-171.

Propionic acidemia: neonatal versus selective metabolic screening.
Grünert S, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer O, Baumgartner M, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann J, Steinfeld R, Beblo S, Koch H, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Sperl W, Kraus J, Superti-Furga A, Schwab K, Sass J
J INHERIT METAB DIS. 2012;35(1):41-49.

Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.
Grünert S, Schwab K, Pohl M, Sass J, Santer R
MOL GENET METAB. 2012;105(3):433-437.

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Grünert S, Stucki M, Morscher R, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab K, Wilcken B, Fowler B, Yue W, Baumgartner M
ORPHANET J RARE DIS. 2012;7:31.

Suggested guidelines for the diagnosis and management of urea cycle disorders
Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D, Martinelli D, Crespo P, Santer R, Servais A, Valayannopoulos V, Lindner M, Rubio V, Dionisi-Vici C
ORPHANET J RARE DIS. 2012;7:32.

Identification of a new fatty acid synthesis-transport machinery at the peroxisomal membrane
Hillebrand M, Gersting S, Lotz-Havla A, Schäfer A, Rosewich H, Valerius O, Muntau A, Gärtner J
J BIOL CHEM. 2012;287(1):210-21.

Aktuelle Ergebnisse notfallmedizinischer Forschung 2011/2012
Hinkelbein J, Bernhard M, Braunecker S, Meixensberger J, Singer D, Thiele H, Böttiger B
Notfallmedizin up2date. 2012;7(4):327-346.

(Val-)Ganciclovir prophylaxis reduces Epstein-Barr virus primary infection in pediatric renal transplantation.
Höcker B, Böhm S, Fickenscher H, Küsters U, Schnitzler P, Pohl M, John U, Kemper M, Fehrenbach H, Wigger M, Holder M, Schröder M, Feneberg R, Köpf-Shakib S, Tönshoff B
TRANSPL INT. 2012;25(7):723-731.

Long-term follow-up after rituximab for steroid-dependent idiopathic nephrotic syndrome.
Kemper M, Gellermann J, Habbig S, Krmar R, Dittrich K, Jungraithmayr T, Pape L, Patzer L, Billing H, Weber L, Pohl M, Rosenthal K, Rosahl A, Müller-Wiefel D, Dötsch J
NEPHROL DIAL TRANSPL. 2012;27(5):1910-1915.

Outbreak of hemolytic uremic syndrome caused by E. coli O104:H4 in Germany: a pediatric perspective.
Kemper M, Markus J
PEDIATR NEPHROL. 2012;27(2):161-164.

Non-enhanced ECG-gated respiratory-triggered 3-D steady-state free-precession MR angiography with slab-selective inversion: initial experience in visualisation of renal arteries in free-breathing children without renal artery abnormality
Klee D, Lanzman R, Blondin D, Schmitt P, Oh J, Salgin B, Mayatepek E, Antoch G, Schaper J
PEDIATR RADIOL. 2012;42(7):785-90.

Unerwartete Schulprobleme und Wesensveränderung
Kohlschütter A, Bley A, Meyer-Osores A, Hartmann M
Neuropäd Klin Prax. 2012;11(3):126-127.

Zerebrale Bildgebung bei angeborenen Stoffwechselfehlern - Eine pädiatrische Annäherung
Kohlschütter A, Löbel U
MONATSSCHR KINDERH. 2012;160(8):742-749.

A child with night blindness: preventing serious symptoms of Refsum disease.
Kohlschütter A, Santer R, Lukacs Z, Altenburg C, Kemper M, Rüther K
J CHILD NEUROL. 2012;27(5):654-656.

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.
Kölker S, Boy S, Heringer J, Müller E, Maier E, Ensenauer R, Mühlhausen C, Schlune A, Greenberg C, Koeller D, Hoffmann G, Haege G, Burgard P
MOL GENET METAB. 2012;107(1-2):72-80.

Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice.
Kollmann K, Damme M, Markmann S, Morelle W, Schweizer M, Hermans-Borgmeyer I, Röchert A, Pohl S, Lübke T, Michalski J, Käkelä R, Walkley S, Braulke T
BRAIN. 2012;135(Pt 9):2661-2675.

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene
Kousi M, Anttila V, Schulz A, Calafato S, Jakkula E, Riesch E, Myllykangas L, Kalimo H, Topçu M, Gökben S, Alehan F, Lemke J, Alber M, Palotie A, Kopra O, Lehesjoki A
J MED GENET. 2012;49(6):391-9.

Mutation analysis in 54 propionic acidemia patients.
Kraus J, Spector E, Venezia S, Estes P, Chiang P, Creadon-Swindell G, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer O, Baumgartner M, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann J, Steinfeld R, Beblo S, Koch H, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab K, Grünert S, Sass J
J INHERIT METAB DIS. 2012;35(1):51-63.

The influence of gender and sexual hormones on incidence and outcome of chronic kidney disease.
Kummer S, von Gersdorff G, Kemper M, Oh J
PEDIATR NEPHROL. 2012;27(8):1213-1219.

Elevated serum levels of B-cell activating factor in pediatric renal transplant patients.
Lehnhardt A, Dunst F, Van Husen M, Loos S, Oh J, Eiermann T, Koch M, Kemper M
PEDIATR NEPHROL. 2012;27(8):1389-1395.

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR.
Lehnhardt A, Lama A, Amann K, Matejas V, Zenker M, Kemper M
PEDIATR NEPHROL. 2012;27(5):865-868.

An outbreak of Shiga toxin-producing Escherichia coli O104:H4 hemolytic uremic syndrome in Germany: presentation and short-term outcome in children.
Loos S, Ahlenstiel T, Kranz B, Staude H, Pape L, Härtel C, Vester U, Buchtala L, Benz K, Hoppe B, Beringer O, Krause M, Müller D, Pohl M, Lemke J, Hillebrand G, Kreuzer M, König J, Wigger M, Konrad M, Haffner D, Oh J, Kemper M
CLIN INFECT DIS. 2012;55(6):753-759.

Mannose 6 dephosphorylation of lysosomal proteins mediated by acid phosphatases Acp2 and Acp5.
Makrypidi G, Damme M, Müller-Loennies S, Trusch M, Schmidt B, Schlüter H, Heeren J, Lübke T, Saftig P, Braulke T
MOL CELL BIOL. 2012;32(4):774-782.

High serum adiponectin concentration in children with chronic kidney disease.
Möller K, Dieterman C, Herich L, Klaassen I, Kemper M, Müller-Wiefel D
PEDIATR NEPHROL. 2012;27(2):243-249.

Comorbidities in chronic pediatric peritoneal dialysis patients: a report of the International Pediatric Peritoneal Dialysis Network
Neu A, Sander A, Borzych-Duzalka D, Watson A, Vallés P, Ha I, Patel H, Askenazi D, Balasz-Chmielewska I, Lauronen J, Groothoff J, Feber J, Schaefer F, Warady B, , Kemper M
PERITON DIALYSIS INT. 2012;32(4):410-8.

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6
Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier M, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber S, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith W, Kahler S, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F
AM J HUM GENET. 2012;90(1):25-39.

Minimal change (steroid sensitive) nephrotic syndrome in children: new aspects on pathogenesis and treatment.
Oh J, Kemper M
MINERVA PEDIATR. 2012;64(2):197-204.

Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients
Ovunc B, Ashraf S, Vega-Warner V, Bockenhauer D, Elshakhs N, Joseph M, Hildebrandt F, , Kemper M
NEPHRON. 2012;120(3):c139-46.

Intermittent flushing improves cannula patency compared to continuous infusion for peripherally inserted venous catheters in newborns: results from a prospective observational study
Perez A, Feuz I, Brotschi B, Bernet V
J PERINAT MED. 2012;40(3):311-4.

A novel mannose 6-phosphate specific antibody fragment for diagnosis of Mucolipidosis type II and III
Pohl S, Braulke T, Müller-Loennies S
2012. Anticarbohydrate antibodies - From molecular basis to clinical application. Springer, Wien: 307-325.

Gesundheitsbezogene Lebensqualität und psychische Gesundheit von kleinwüchsigen Kindern und Jugendlichen
Quitman J, Behncke J, Dörr H, Rolf P, Wüsthof A, Stahnke N, Jakisch B, Partsch C, Nöker M, Kuhnle-Krahl U, Rohenkohl A, Bullinger M
Zeitschrift für Medizinische Psychologie. 2012;31(3):132-139.

Defects in Transport: Mucolipidosis II alpha/beta, mucolipidosis III alpha/beta and mucolipidosis III gamma
Raas-Rothschild A, Pohl S, Braulke T
2012. Lysosomal Storage Disorders: A Practical Guide. WileyBlackwell, London: 121-126.

Multiple Enzyme Deficiencies: Defects in transport: Mucolipidosis II alpha/beta; mucolipidosis III alpha/beta and mucolipidosis III gamma
Raas-Rothschild A, Pohl S, Braulke T
2012. Lysosomal Storage Diseases: A Practical Guide. WileyBlackwell, London: 121-126.

Pseudoexfoliationssyndrom: Fehlen der zentralen Zone des Pseudoexfoliations-Materials bei Patienten mit Pseudophakie - eine klinische Studie
Reiter C, Gramer E, Gramer G
KLIN MONATSBL AUGENH. 2012;229(3):241-5.

Novel pharmacological chaperones that correct phenylketonuria in mice
Santos-Sierra S, Kirchmair J, Perna A, Reiss D, Kemter K, Röschinger W, Glossmann H, Gersting S, Muntau A, Wolber G, Lagler F
HUM MOL GENET. 2012;21(8):1877-87.

Impact of global economic disparities on practices and outcomes of chronic peritoneal dialysis in children: insights from the International Pediatric Peritoneal Dialysis Network Registry
Schaefer F, Borzych-Duzalka D, Azocar M, Munarriz R, Sever L, Aksu N, Barbosa L, Galan Y, Xu H, Coccia P, Szabo A, Wong W, Salim R, Vidal E, Pottoore S, Warady B, , Kemper M
PERITON DIALYSIS INT. 2012;32(4):399-409.

Exploring the unique N-glycome of the opportunistic human pathogen Acanthamoeba.
Schiller B, Makrypidi G, Razzazi-Fazeli E, Paschinger K, Walochnik J, Wilson I
J BIOL CHEM. 2012;287(52):43191-43204.

Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome
Schossig A, Wolf N, Kapferer I, Kohlschütter A, Zschocke J
EUR J MED GENET. 2012;55(5):319-22.

Neuronale Zeroidlipofuszinosen (NCL) - Metabolische Demenzkrankheiten im Kindesalter
Schulz A, Kohlschütter A
MONATSSCHR KINDERH. 2012;160:734-741.

Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome
Sheikhzadeh S, Kade C, Keyser B, Stuhrmann M, Arslan-Kirchner M, Rybczynski M, Bernhardt A, Habermann C, Hillebrand M, Mir T, Robinson P, Berger J, Detter C, Blankenberg S, Schmidtke J, von Kodolitsch Y
CLIN GENET. 2012;82(3):240-247.

A simple clinical model to estimate the probability of Marfan syndrome
Sheikhzadeh S, Kusch M, Rybczynski M, Kade C, Keyser B, Bernhardt A, Hillebrand M, Mir T, Fuisting B, Robinson P, Berger J, Lorenzen V, Schmidtke J, Blankenberg S, von Kodolitsch Y
QJM-INT J MED. 2012;105(6):527-535.

Ertrinkungsunfall eines Kleinkinds im Gartenteich
Singer D
Notfallmedizin up2date. 2012;7:9-13.

[Long-term survival of preterm neonates].
Singer D
BUNDESGESUNDHEITSBLA. 2012;55(4):568-575.

Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7.
Steenhuis P, Froemming J, Reinheckel T, Storch S
Biochim Biophys Acta. 2012;1822(10):1617-1628.

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations
Steenweg M, Ghezzi D, Haack T, Abbink T, Martinelli D, van Berkel C, Bley A, Diogo L, Grillo E, Te Water Naudé J, Strom T, Bertini E, Prokisch H, van der Knaap M, Zeviani M
BRAIN. 2012;135(Pt 5):1387-94.

Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria
Stéphenne X, Debray F, Smets F, Jazouli N, Sana G, Tondreau T, Menten R, Goffette P, Boemer F, Schoos R, Gersting S, Najimi M, Muntau A, Goyens P, Sokal E
CELL TRANSPLANT. 2012;21(12):2765-70.

Disruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosis.
Thelen M, Damme M, Daμμe M, Schweizer M, Hagel C, Wong A, Cooper J, Braulke T, Galliciotti G
PLOS ONE. 2012;7(4):35493.

High expression of disease-related Cln6 in the cerebral cortex, purkinje cells, dentate gyrus, and hippocampal ca1 neurons.
Thelen M, Fehr S, Schweizer M, Braulke T, Galliciotti G
J NEUROSCI RES. 2012;90(3):568-574.

Advances in TERS (tip-enhanced Raman scattering) for biochemical applications
Treffer R, Böhme R, Deckert-Gaudig T, Lau K, Tiede S, Lin X, Deckert V
BIOCHEM SOC T. 2012;40(4):609-14.

Cantú syndrome is caused by mutations in ABCC9
van Bon B, Gilissen C, Grange D, Hennekam R, Kayserili H, Engels H, Reutter H, Ostergaard J, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman J, Robertson S, Brunner H, de Vries B, Hoischen A
AM J HUM GENET. 2012;90(6):1094-101.

Fibroblast growth factor 23 and calcium phosphate homeostasis after pediatric renal transplantation.
Van Husen M, Lehnhardt A, Fischer A, Brinkert F, Loos S, Oh J, Kemper M
PEDIATR TRANSPLANT. 2012;16(5):443-450.

The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.
van Rahden V, Brand K, Najm J, Heeren J, Heeren J, Braulke T, Kutsche K, Kutsche K
HUM MOL GENET. 2012;21(23):5019-5038.

The lectin-like domain of thrombomodulin ameliorates diabetic glomerulopathy via complement inhibition
Wang H, Vinnikov I, Shahzad K, Bock F, Ranjan S, Wolter J, Kashif M, Oh J, Bierhaus A, Nawroth P, Kirschfink M, Conway E, Madhusudhan T, Isermann B
THROMB HAEMOSTASIS. 2012;108(6):1141-53.

Expert recommendations for the laboratory diagnosis of MPS VI.
Wood T, Bodamer O, Burin M, D'Almeida V, Fietz M, Giugliani R, Hawley S, Hendriksz C, Hwu W, Ketteridge D, Lukacs Z, Mendelsohn N, Miller N, Pasquali M, Schenone A, Schoonderwoerd K, Winchester B, Harmatz P
MOL GENET METAB. 2012;106(1):73-82.

"Pelizaeus-Merzbacher-like disease" presenting as complicated hereditary spastic paraplegia
Zittel S, Nickel M, Wolf N, Uyanik G, Gläser D, Ganos C, Gerloff C, Münchau A, Kohlschütter A
J NEUROL. 2012;259(11):2498-500.

Up to date knowledge on different treatment strategies for phenylketonuria
Bélanger-Quintana A, Burlina A, Harding C, Muntau A
MOL GENET METAB. 2011;104 Suppl:S19-25.

Suction catheter tip as an endobronchial foreign body.
Blohm M, Vezyroglou K, Riedel F, Roth B, Singer D
INTENS CARE MED. 2011;37(12):2052-2053.

High prevalence of renal dysfunction in children after liver transplantation: non-invasive diagnosis using a cystatin C-based equation.
Brinkert F, Kemper M, Briem-Richter A, Van Husen M, Treszl A, Ganschow R
NEPHROL DIAL TRANSPL. 2011;26(4):1407-1412.

Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS)
Burton B, Whiteman D, , Muschol N
MOL GENET METAB. 2011;103(2):113-20.

Effect of kidney disease on glucose handling (including genetic defects)
Calado J, Santer R, Rueff J
Kidney international. Supplement. 2011;(120):S7-13.

CLN2
Chang M, Cooper J, Davidson B, van Diggelen O, Elleder M, Goebel H, Golabek A, Kida E, Kohlschütter A, Lobel P, Mole S, Schulz A, Sleat D, Warburton M, Wisniewski K
2011. The Neuronal Ceroid Lipofuscinoses (Batten Disease). Oxford University Press, .

Early-childhood membranous nephropathy due to cationic bovine serum albumin.
Debiec H, Lefeu F, Kemper M, Niaudet P, Deschênes G, Remuzzi G, Ulinski T, Ronco P
NEW ENGL J MED. 2011;364(22):2101-2110.

Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations
du Moulin M, Nürnberg P, Crow Y, Rutsch F
P NATL ACAD SCI USA. 2011;108(26):E232; author reply E233.

Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase.
Encarnação M, Kollmann K, Trusch M, Braulke T, Pohl S
J BIOL CHEM. 2011;286(7):5311-5318.

Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns
Ensenauer R, Fingerhut R, Maier E, Polanetz R, Olgemöller B, Röschinger W, Muntau A
CLIN CHEM. 2011;57(4):623-6.

Large and ongoing outbreak of haemolytic uraemic syndrome, Germany, May 2011
Frank C, Faber M, Askar M, Bernard H, Fruth A, Gilsdorf A, Hohle M, Karch H, Krause G, Prager R, Spode A, Stark K, Werber D, , Oh J
EUROSURVEILLANCE. 2011;16(21):.

Epidemic profile of Shiga-toxin-producing Escherichia coli O104:H4 outbreak in Germany.
Frank C, Werber D, Cramer J, Askar M, Faber M, Matthias A, Bernard H, Fruth A, Prager R, Spode A, Wadl M, Zoufaly A, Jordan S, Kemper M, Follin P, Müller L, King L, Rosner B, Buchholz U, Stark K, Krause G, Team H
NEW ENGL J MED. 2011;365(19):1771-1780.

Thyrotropin-releasing hormone selectively stimulates human hair follicle pigmentation
Gáspár E, Nguyen-Thi K, Hardenbicker C, Tiede S, Plate C, Bodó E, Knuever J, Funk W, Bíró T, Paus R
J INVEST DERMATOL. 2011;131(12):2368-77.

Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course
Groeschel S, Kehrer C, Engel C, I Dali C, Bley A, Steinfeld R, Grodd W, Krägeloh-Mann I
J INHERIT METAB DIS. 2011;34(5):1095-102.

Immediate postoperative intensive care treatment of pediatric combined liver-kidney transplantation: outcome and prognostic factors.
Harps E, Brinkert F, Ganschow R, Briem-Richter A, Van Husen M, Schmidtke S, Herden U, Nashan B, Fischer L, Kemper M
TRANSPLANTATION. 2011;91(10):1127-1131.

Surgical aspects and outcome of combined liver and kidney transplantation in children.
Herden U, Kemper M, Ganschow R, Klaassen I, Grabhorn E, Brinkert F, Nashan B, Fischer L
TRANSPL INT. 2011;24(8):805-811.

Aktuelle Ergebnisse notfallmedizinischer Forschung 2010/2011
Hinkelbein J, Singer D, Thiele H, Meixensberger J, Böttiger B
Notfallmedizin up2date. 2011;6(4):337-352.

Efficacy and safety of Oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria.
Hoppe B, Groothoff J, Hulton S, Cochat P, Niaudet P, Kemper M, Deschênes G, Unwin R, Milliner D
NEPHROL DIAL TRANSPL. 2011;26(11):3609-3615.

Susceptibility to the long-term anxiogenic effects of an acute stressor is mediated by the activation of the glucocorticoid receptors.
Jakovcevski M, Schachner M, Morellini F
NEUROPHARMACOLOGY. 2011;61(8):1297-1305.

Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis.
Kędzierska K, Kwiatkowski S, Torbé A, Marchelek-Myśliwiec M, Marcinkiewicz O, Bobrek-Lesiakowska K, Gołembiewska E, Kwiatkowska E, Rzepka R, Ciechanowski K, Czajka R, Santer R
AM J MED GENET A. 2011;155A(8):2028-2030.

Follow-up survey of children who received sulfadoxine-pyrimethamine for intermittent preventive antimalarial treatment in infants
Kobbe R, Hogan B, Adjei S, Klein P, Kreuels B, Loag W, Adjei O, May J
J INFECT DIS. 2011;203(4):556-60.

Evaluating experimental treatment of leukodystrophies.
Kohlschütter A
DEV MED CHILD NEUROL. 2011;53(9):781.

Childhood leukodystrophies: a clinical perspective.
Kohlschütter A, Eichler F
EXPERT REV NEUROTHER. 2011;11(10):1485-1496.

Diagnosis and management of glutaric aciduria type I--revised recommendations.
Kölker S, Christensen E, Leonard J, Greenberg C, Boneh A, Burlina A, Burlina A, Dixon M, Duran M, Angels G, Goodman S, Koeller D, Kyllerman M, Mühlhausen C, Müller E, Okun J, Wilcken B, Hoffmann G, Burgard P
J INHERIT METAB DIS. 2011;34(3):677-694.

Ectopic craniopharyngioma.
Kordes U, Flitsch J, Hagel C, Goebell E, Schwarz R, Herberhold T, von Bueren A, Rutkowski S, Müller H
KLIN PADIATR. 2011;223(3):176-177.

Lectures based on cardinal symptoms in undergraduate medicine - effects of evaluation-based interventions on teaching large groups.
Kuhnigk O, Weidtmann K, Anders S, Hüneke B, Santer R, Harendza S
GMS J MED EDU. 2011;28(1):15.

Leitsymptomvorlesungen im klinischen Studienabschnitt - Effekte evaluationsbasierter Interventionen auf eine Großgruppen-Lehrveranstaltung
Kuhnigk O, Weidtmann K, Anders S, Hüneke B, Santer R, Harendza S
GMS J MED EDU. 2011;28(1):15.

Estrogen receptor alpha expression in podocytes mediates protection against apoptosis in-vitro and in-vivo.
Kummer S, Jeruschke S, Wegerich L, Peters A, Lehmann P, Seibt A, Müller F, Koleganova N, Halbenz E, Schmitt C, Bettendorf M, Mayatepek E, Gross-Weissmann M, Oh J
PLOS ONE. 2011;6(11):27457.

Liver fibrosis in recessive multicystic kidney diseases: transient elastography for early detection.
Kummer S, Sagir A, Pandey S, Feldkötter M, Habbig S, Körber F, Ney D, Hoppe B, Häussinger D, Mayatepek E, Oh J
PEDIATR NEPHROL. 2011;26(5):725-731.

Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.
Lamp J, Keyser B, Koeller D, Ullrich K, Braulke T, Mühlhausen C
J BIOL CHEM. 2011;286(20):17777-17784.

Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease.
Lebrun A, Moll-Khasrawi P, Pohl S, Makrypidi G, Storch S, Kilian D, Streichert T, Otto B, Mole S, Ullrich K, Cotman S, Kohlschütter A, Braulke T, Schulz A
MOL MED. 2011;17(11-12):1253-1261.

Pathogenesis, diagnosis and management of hyperkalemia.
Lehnhardt A, Kemper M
PEDIATR NEPHROL. 2011;26(3):377-384.

Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany
Lindner M, Gramer G, Haege G, Fang-Hoffmann J, Schwab K, Tacke U, Trefz F, Mengel E, Wendel U, Leichsenring M, Burgard P, Hoffmann G
ORPHANET J RARE DIS. 2011;6:44.

Dried blood spots in the diagnosis of lysosomal storage disorders--possibilities for newborn screening and high-risk population screening.
Lukacs Z, Nieves Cobos P, Keil A, Hartung R, Mengel E, Beck M, Deschauer M, Hanisch F, Santer R
CLIN BIOCHEM. 2011;44(7):476.

Functional roles of Ca(v)1.3, Ca(v)3.1 and HCN channels in automaticity of mouse atrioventricular cells: insights into the atrioventricular pacemaker mechanism.
Marger L, Mesirca P, Alig J, Torrente A, Dubel S, Engeland B, Kanani S, Fontanaud P, Striessnig J, Shin H, Isbrandt D, Ehmke H, Nargeot J, Mangoni M
CHANNELS. 2011;5(3):251-261.

Pacemaker activity and ionic currents in mouse atrioventricular node cells.
Marger L, Mesirca P, Alig J, Torrente A, Dubel S, Engeland B, Kanani S, Fontanaud P, Striessnig J, Shin H, Isbrandt D, Ehmke H, Nargeot J, Mangoni M
CHANNELS. 2011;5(3):241-250.

Chronic pancreatitis in branched-chain organic acidurias--a case of methylmalonic aciduria and an overview of the literature.
Marquard J, Tarik E, Klee D, Schmitt M, Meissner T, Mayatepek E, Oh J
EUR J PEDIATR. 2011;170(2):241-245.

A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism.
Marschner K, Kollmann K, Schweizer M, Braulke T, Pohl S
SCIENCE. 2011;333(6038):87-90.

IL3 variant on chromosomal region 5q31-33 and protection from recurrent malaria attacks
Meyer C, Calixto Fernandes M, Intemann C, Kreuels B, Kobbe R, Kreuzberg C, Ayim M, Ruether A, Loag W, Ehmen C, Adjei S, Adjei O, Horstmann R, May J
HUM MOL GENET. 2011;20(6):1173-81.

Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome
Muschol N, Pohl S, Meyer A, Gal A, Ullrich K, Braulke T
AM J MED GENET A. 2011;155A(7):1634-1639.

The use of everolimus in pediatric liver transplant recipients: first experience in a single center.
Nielsen D, Briem-Richter A, Sornsakrin M, Fischer L, Nashan B, Ganschow R
PEDIATR TRANSPLANT. 2011;15(5):510-514.

Desperately seeking diarrhoea: outbreak of haemolytic uraemic syndrome caused by emerging sorbitol-fermenting shiga toxin-producing Escherichia coli O157:H-, Germany, 2009.
Nielsen S, Frank C, Fruth A, Spode A, Prager R, Graff A, Plenge-Bönig A, Loos S, Lütgehetmann M, Kemper M, Müller-Wiefel D, Werber D
ZOONOSES PUBLIC HLTH. 2011;58(8):567-572.

Stimulation of the calcium-sensing receptor stabilizes the podocyte cytoskeleton, improves cell survival, and reduces toxin-induced glomerulosclerosis
Oh J, Beckmann J, Bloch J, Hettgen V, Mueller J, Li L, Hoemme M, Gross M, Penzel R, Mundel P, Schaefer F, Schmitt C
KIDNEY INT. 2011;80(5):483-92.

A novel xenogeneic co-culture system to examine neuronal differentiation capability of various adult human stem cells
Petschnik A, Fell B, Tiede S, Habermann J, Pries R, Kruse C, Danner S
PLOS ONE. 2011;6(9):e24944.

N-glycans and glycosylphosphatidylinositol-anchor act on polarized sorting of mouse PrP(C) in Madin-Darby canine kidney cells.
Puig Martorell B, Altmeppen H, Thurm D, Geissen M, Conrad C, Braulke T, Glatzel M
PLOS ONE. 2011;6(9):24624.

Spermidine promotes human hair growth and is a novel modulator of human epithelial stem cell functions
Ramot Y, Tiede S, Bíró T, Abu Bakar M, Sugawara K, Philpott M, Harrison W, Pietilä M, Paus R
PLOS ONE. 2011;6(7):e22564.

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.
Reuser A, Verheijen F, Bali D, Diggelen v, Otto P, Germain D, Lukacs Z, Lukacs Z, Mühl A, Olivova P, Piraud M, Wuyts B, Zhang K, Keutzer J
MOL GENET METAB. 2011;104(1-2):144-148.

Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients
Rivera I, Mendes D, Afonso Â, Barroso M, Ramos R, Janeiro P, Oliveira A, Gaspar A, Tavares de Almeida I
MOL GENET METAB. 2011;104 Suppl:S86-92.

Open-source genomic analysis of Shiga-toxin-producing E. coli O104:H4.
Rohde H, Qin J, Cui Y, Li D, Loman N, Hentschke M, Chen W, Pu F, Peng Y, Li J, Xi F, Li S, Li Y, Zhang Z, Yang X, Zhao M, Wang P, Guan Y, Cen Z, Zhao X, Christner M, Kobbe R, Loos S, Oh J, Yang L, Danchin A, Gao G, Song Y, Li Y, Yang H, Wang J, Xu J, Pallen M, Wang J, Aepfelbacher M, Yang R, Consortium E
NEW ENGL J MED. 2011;365(8):718-724.

The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response
Staudigl M, Gersting S, Danecka M, Messing D, Woidy M, Pinkas D, Kemter K, Blau N, Muntau A
HUM MOL GENET. 2011;20(13):2628-41.

Neural cell adhesion molecule ablation in mice causes hippocampal dysplasia and loss of septal cholinergic neurons.
Tereshchenko Y, Morellini F, Dityatev A, Schachner M, Irintchev A
J COMP NEUROL. 2011;519(12):2475-2492.

New therapies in steroid-sensitive and steroid-resistant idiopathic nephrotic syndrome.
Van Husen M, Kemper M
PEDIATR NEPHROL. 2011;26(6):881-892.

Varicella zoster virus ORF25 gene product: an essential hub protein linking encapsidation proteins and the nuclear egress complex
Vizoso Pinto M, Pothineni V, Haase R, Woidy M, Lotz-Havla A, Gersting S, Muntau A, Haas J, Sommer M, Arvin A, Baiker A
J PROTEOME RES. 2011;10(12):5374-82.

Fanconi-Bickel syndrome and fertility.
von Schnakenburg C, Santer R
AM J MED GENET A. 2011;155A(10):2607.

Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases
Bockenhauer D, van't Hoff W, Dattani M, Lehnhardt A, Subtirelu M, Hildebrandt F, Bichet D
NEPHRON PHYSIOL. 2010;116(4):p23-9.

Thyroid-stimulating hormone, a novel, locally produced modulator of human epidermal functions, is regulated by thyrotropin-releasing hormone and thyroid hormones
Bodó E, Kany B, Gáspár E, Knüver J, Kromminga A, Ramot Y, Bíró T, Tiede S, van Beek N, Poeggeler B, Meyer K, Wenzel B, Paus R
ENDOCRINOLOGY. 2010;151(4):1633-42.

Sustainability of motor performance after robotic-assisted treadmill therapy in children: an open, non-randomized baseline-treatment study
Borggraefe I, Kiwull L, Schaefer J, Koerte I, Blaschek A, Meyer-Heim A, Heinen F
EUR J PHYS REHAB MED. 2010;46(2):125-31.

Therapy-refractory gastrointestinal motility disorder in a child with c-kit mutations
Breuer C, Oh J, Molderings G, Schemann M, Kuch B, Mayatepek E, Adam R
WORLD J GASTROENTERO. 2010;16(34):4363-4366.

Mandibular aneurysmal bone cyst in a child misdiagnosed as acute osteomyelitis: a case report and a review of the literature
Breuer C, Paul H, Zimmermann A, Braunstein S, Schaper J, Mayatepek E, Oh J
EUR J PEDIATR. 2010;169(8):1037-40.

Hemorrhagic necrotizing pancreatitis with a huge pseudocyst in a child with Crohn's disease.
Briem-Richter A, Grabhorn E, Wenke K, Ganschow R
EUR J GASTROEN HEPAT. 2010;22(2):234-236.

Multiplicity of Plasmodium falciparum infection following intermittent preventive treatment in infants
Buchholz U, Kobbe R, Danquah I, Zanger P, Reither K, Abruquah H, Grobusch M, Ziniel P, May J, Mockenhaupt F
MALARIA J. 2010;9:244.

Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey
Burton B, Guffon N, Roberts J, van der Ploeg A, Jones S, , Muschol N
MOL GENET METAB. 2010;101(2-3):123-9.

Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
Büscher A, Kranz B, Büscher R, Hildebrandt F, Dworniczak B, Pennekamp P, Kuwertz-Bröking E, Wingen A, John U, Kemper M, Monnens L, Hoyer P, Weber S, Konrad M
CLIN J AM SOC NEPHRO. 2010;5(11):2075-2084.

The TCN2 776CNG polymorphism correlates with vitamin B(12) cellular delivery in healthy adult populations
Castro R, Barroso M, Rocha M, Esse R, Ramos R, Ravasco P, Rivera I, de Almeida I
CLIN BIOCHEM. 2010;43(7-8):645-9.

Correspondence (letter to the editor): Neurological complications
Deindl P, Varnholt V
DTSCH ARZTEBL INT. 2010;107(13):229; author reply 230.

Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation
Dressler S, Meyer-Marcotty P, Weisschuh N, Jablonski-Momeni A, Pieper K, Gramer G, Gramer E
CASE REP MED. 2010;2010:621984.

An improved, standardised protocol for the isolation, enrichment and targeted neural differentiation of Nestin+ progenitors from adult human dermis
Ernst N, Tiede S, Tronnier V, Kruse C, Zechel C, Paus R
EXP DERMATOL. 2010;19(6):549-55.

Parallel assessment of prolonged neonatal distress by empathy-based and item-based scales
Garten L, Deindl P, Schmalisch G, Metze B, Bührer C
EUR J PAIN. 2010;14(8):878-81.

Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo
Gersting S, Lagler F, Eichinger A, Kemter K, Danecka M, Messing D, Staudigl M, Domdey K, Zsifkovits C, Fingerhut R, Glossmann H, Roscher A, Muntau A
HUM MOL GENET. 2010;19(10):2039-49.

Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor
Gersting S, Staudigl M, Truger M, Messing D, Danecka M, Sommerhoff C, Kemter K, Muntau A
J BIOL CHEM. 2010;285(40):30686-97.

Use of guidelines improves the neurological outcome in glutaric aciduria type I.
Heringer J, Boy S, Ensenauer R, Assmann B, Zschocke J, Harting I, Lücke T, Maier E, Mühlhausen C, Haege G, Hoffmann G, Burgard P, Kölker S
ANN NEUROL. 2010;68(5):743-752.

Aktuelle Ergebnisse notfallmedizinischer Forschung 2009/2010
Hinkelbein J, Singer D, Thiele H, Meixensberger J, Böttiger B
Notfallmedizin up2date. 2010;5(3):253-268.

Diagnostic examination of the child with urolithiasis or nephrocalcinosis.
Hoppe B, Kemper M
PEDIATR NEPHROL. 2010;25(3):403-413.

ADP-dependent platelet function prior to and in the early course of pediatric liver transplantation and persisting thrombocytopenia are positively correlated with ischemia/reperfusion injury.
Jan S, Akyildiz A, Tustas R, Ganschow R, Schmelzle M, Krieg A, Robson S, Topp S, Rogiers X, Knoefel W, Fischer L
TRANSPL INT. 2010;23(7):745-752.

Attention and executive functioning deficits in liver-transplanted children.
Kaller T, Langguth N, Ganschow R, Nashan B, Schulz K
TRANSPLANTATION. 2010;90(12):1567-1573.

Acute renal failure
Kemper M
2010. Pediatric Nephrology - A Textbook for medical practitioners. GEOTAR-Media: 338-345.

Nephronophthisis
Kemper M
2010. Pediatric Nephrology - A Textbook for medical practitioners. GEOTAR-Media: 209-213.

Nephrotic Syndrome
Kemper M
2010. Pediatric Nephrology - A Textbook for medical practitioners. GEOTAR-Media: 141-143.

Das nephrotische Syndrom im Kindesalter Das nephrotische Syndrom im Kindesalter
Klaassen I, Kemper M
Kinder- und Jugendmedizin. 2010;10(4):203-210.

Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults
Kohlschütter A, Bley A, Brockmann K, Gärtner J, Krägeloh-Mann I, Rolfs A, Schöls L
BRAIN DEV-JPN. 2010;32(2):82-89.

Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.
Kordes U, Briem-Richter A, Santer R, Schäfer H, Singer D, Sonntag J, Steuerwald U, Schneppenheim R, Janka-Schaub G
PEDIATR BLOOD CANCER. 2010;54(5):758-760.

Neonatal cholestasis in glucose-6-phosphate dehydrogenase deficiency.
Kordes U, Briem-Richter A, Santer R, Schäfer H, Singer D, Sonntag J, Steuerwald U, Schneppenheim R, Janka-Schaub G
PEDIATR BLOOD CANCER. 2010;54(5):758-766.

Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.
Kurze A, Galliciotti G, Heine C, Mole S, Quitsch A, Braulke T
HUM MUTAT. 2010;31(2):1163-1174.

New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
Lagler F, Gersting S, Zsifkovits C, Steinbacher A, Eichinger A, Danecka M, Staudigl M, Fingerhut R, Glossmann H, Muntau A
BIOCHEM PHARMACOL. 2010;80(10):1563-71.

Protein kinase a dependent phosphorylation of apical membrane antigen 1 plays an important role in erythrocyte invasion by the malaria parasite.
Leykauf K, Treeck M, Gilson P, Nebl T, Braulke T, Cowman A, Gilberger T, Crabb B
PLOS PATHOG. 2010;6(6):1000941.

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac M, Barrow M, Bláhová K, Bockenhauer D, Cheong H, Maruniak-Chudek I, Cochat P, Dötsch J, Gajjar P, Hennekam R, Janssen F, Kagan M, Kariminejad A, Kemper M, Koenig J, Kogan J, Kroes H, Kuwertz-Bröking E, Lewanda A, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wühl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M
HUM MUTAT. 2010;31(9):992-1002.

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey
Mendelsohn N, Harmatz P, Bodamer O, Burton B, Giugliani R, Jones S, Lampe C, Malm G, Steiner R, Parini R, , Muschol N
GENET MED. 2010;12(12):816-22.

Improved reversal learning and working memory and enhanced reactivity to novelty in mice with enhanced GABAergic innervation in the dentate gyrus.
Morellini F, Sivukhina E, Stoenica L, Oulianova E, Bukalo O, Jakovcevski I, Dityatev A, Irintchev A, Schachner M
CEREB CORTEX. 2010;20(11):2712-2727.

A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice.
Müller-Loennies S, Galliciotti G, Kollmann K, Glatzel M, Braulke T
AM J PATHOL. 2010;177(1):240-247.

Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism
Muntau A, Gersting S
J INHERIT METAB DIS. 2010;33(6):649-58.

A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease.
Neu A, Eiselt M, Paul M, Sauter K, Stallmeyer B, Isbrandt D, Schulze-Bahr E
HUM MUTAT. 2010;31(8):1609-1621.

Second-line Options for Refractory Steroid-sensitive and -resistant Nephrotic Syndrome
Oh J, Kemper M
EXPERT REV CLIN PHAR. 2010;3(4):527-537.

Novel human parvovirus 4 genotype 3 in infants, Ghana
Panning M, Kobbe R, Vollbach S, Drexler J, Adjei S, Adjei O, Drosten C, May J, Eis-Hubinger A
EMERG INFECT DIS. 2010;16(7):1143-6.

Blickdiagnose: Gangstörung und krauses Haar
Pittner M, Kohlschütter A
Neuropäd Klin Prax. 2010;04:125.

Leptin and the Skin: a new frontier
Poeggeler B, Schulz C, Pappolla M, Bodó E, Tiede S, Lehnert H, Paus R
EXP DERMATOL. 2010;19(1):12-8.

Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.
Pohl S, Encarnação M, Castrichini M, Müller-Loennies S, Muschol N, Braulke T
AM J MED GENET A. 2010;152(1):124-132.

Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages
Pohl S, Tiede S, Marschner K, Encarnação M, Castrichini M, Kollmann K, Muschol N, Ullrich K, Müller-Loennies S, Braulke T
J BIOL CHEM. 2010;285(31):23936-23944.

Prolactin--a novel neuroendocrine regulator of human keratin expression in situ
Ramot Y, Bíró T, Tiede S, Tóth B, Langan E, Sugawara K, Foitzik K, Ingber A, Goffin V, Langbein L, Paus R
FASEB J. 2010;24(6):1768-79.

Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.
Santer R, Calado J
CLIN J AM SOC NEPHRO. 2010;5(1):133-141.

Site-specific analysis of N-linked oligosaccharides of recombinant lysosomal arylsulfatase A produced in different cell lines.
Schröder S, Matthes F, Hyden P, Andersson C, Fogh J, Müller-Loennies S, Braulke T, Gieselmann V, Matzner U
GLYCOBIOLOGY. 2010;20(2):248-259.

Violence against children: further evidence suggesting a relationship between burns, scalds, and the additional injuries.
Seifert D, Krohn J, Larson M, Lambe A, Püschel K, Kurth H
INT J LEGAL MED. 2010;124(1):49-54.

Value of ultrasound-guided percutaneous liver biopsy in children following liver transplantation.
Sornsakrin M, Helmke K, Briem-Richter A, Ganschow R
J PEDIATR GASTR NUTR. 2010;51(5):635-637.

Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.
Spiekerkoetter U, Haussmann U, Mueller M, Frank T, Stehn M, Santer R, Lukacs Z
J PEDIATR-US. 2010;157(4):668-673.

Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif.
Steenhuis P, Herder S, Gelis S, Braulke T, Storch S
TRAFFIC. 2010;11(7):987-1000.

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression
Thiele H, du Moulin M, Barczyk K, George C, Schwindt W, Nürnberg G, Frosch M, Kurlemann G, Roth J, Nürnberg P, Rutsch F
HUM MUTAT. 2010;31(11):E1836-50.

Glycostructures in biological systems - synthesis and function.
Thiem J, Braulke T
EUR J CELL BIOL. 2010;89(1):1.

Endocrine controls of primary adult human stem cell biology: thyroid hormones stimulate keratin 15 expression, apoptosis, and differentiation in human hair follicle epithelial stem cells in situ and in vitro
Tiede S, Bohm K, Meier N, Funk W, Paus R
EUR J CELL BIOL. 2010;89(10):769-77.

Hormonal regulation of human hair follicle epithelial stem cell functions in situ and in vitro
Tiede S, Bohm K, Ramot Y, Plate C, Paus R
J STEM CELLS REGEN. 2010;6(2):69.

Fibroblast growth factor 23 and bone metabolism in children with chronic kidney disease.
Van Husen M, Fischer A, Lehnhardt A, Klaassen I, Möller K, Müller-Wiefel D, Kemper M
KIDNEY INT. 2010;78(2):200-206.

Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma
Wolf C, Gramer E, Müller-Myhsok B, Pasutto F, Gramer G, Wissinger B, Weisschuh N
J GLAUCOMA. 2010;19(2):136-41.

Control of heart rate by cAMP sensitivity of HCN channels.
Alig J, Marger L, Mesirca P, Ehmke H, Mangoni M, Isbrandt D
P NATL ACAD SCI USA. 2009;106(29):12189-12194.

Efficacy and safety of intermittent preventive treatment with sulfadoxine-pyrimethamine for malaria in African infants: a pooled analysis of six randomised, placebo-controlled trials
Aponte J, Schellenberg D, Egan A, Breckenridge A, Carneiro I, Critchley J, Danquah I, Dodoo A, Kobbe R, Lell B, May J, Premji Z, Sanz S, Sevene E, Soulaymani-Becheikh R, Winstanley P, Adjei S, Anemana S, Chandramohan D, Issifou S, Mockenhaupt F, Owusu-Agyei S, Greenwood B, Grobusch M, Kremsner P, Macete E, Mshinda H, Newman R, Slutsker L, Tanner M, Alonso P, Menendez C
LANCET. 2009;374(9700):1533-42.

Sorting of lysosomal proteins.
Braulke T, Bonifacino J
BBA-MOL CELL RES. 2009;1793(4):605-614.

Prevalence of polyomavirus viruria (JC virus/BK virus) in children following liver transplantation.
Brinkert F, Briem-Richter A, Ilchmann C, Kemper M, Ganschow R
PEDIATR TRANSPLANT. 2009.

Transplantation procedures in children with primary hyperoxaluria type 1: outcome and longitudinal growth.
Brinkert F, Ganschow R, Helmke K, Harps E, Fischer L, Nashan B, Hoppe B, Kulke S, Müller-Wiefel D, Kemper M
TRANSPLANTATION. 2009;87(9):1415-1421.

Chronic mucocutaneous candidiasis may cause elevated gliadin antibodies.
Brinkert F, Sornsakrin M, Krebs-Schmitt D, Ganschow R
ACTA PAEDIATR. 2009.

Computer simulations suggest that acute correction of hyperglycaemia with an insulin bolus protocol might be useful in brain FDG PET.
Buchert R, Santer R, Brenner W, Apostolova I, Mester J, Clausen M, Silverman D
NUKLEARMED-NUCL MED. 2009;48(1):44-54.

Comparison of three clinical rating scales in Friedreich ataxia (FRDA).
Bürk K, Mälzig U, Wolf S, Heck S, Dimitriadis K, Schmitz-Hübsch T, Hering S, Lindig T, Haug V, Timmann D, Degen I, Kruse B, Dörr J, Ratzka S, Ivo A, Schöls L, Boesch S, Klockgether T, Klopstock T, Schulz J
MOVEMENT DISORD. 2009.

Kidney transplantation in patients with Fabry disease
Cybulla M, Walter K, Schwarting A, Divito R, Feriozzi S, Sunder-Plassmann G
TRANSPL INT. 2009;22(4):475-481.

Microstructural callosal abnormalities in normal-appearing brain of children with developmental delay detected with diffusion tensor imaging.
Ding X, Sun Y, Kruse B, Illies T, Zeumer H, Fiehler J, Lanfermann H
EUR RADIOL. 2009;19(6):1537-1543.

Biologika in der Therapie des nephrotischen Syndroms.(Biologicals in the treatment of childhood nephrotic syndrome)
Dötsch J, Müller-Wiefel D, Kemper M
MONATSSCHR KINDERH. 2009;157(3):247-253.

Urinary proteome pattern in children with renal Fanconi syndrome.
Drube J, Schiffer E, Mischak H, Kemper M, Neuhaus T, Pape L, Lichtinghagen R, Ehrich J
NEPHROL DIAL TRANSPL. 2009;24(7):2161-2169.

Home-based exercise training as maintenance after outpatient pulmonary rehabilitation
du Moulin M, Taube K, Wegscheider K, Behnke M, van den Bussche H
RESPIRATION. 2009;77(2):139-45.

Acquired von Willebrand syndrome as side effect of valproic acid therapy in children is rare.
Eberl W, Budde U, Bentele K, Christen H, Knapp R, Mey A, Schneppenheim R
HAMOSTASEOLOGIE. 2009;29(2):137-142.

Metachromatic leukodystrophy: a scoring system for brain MR imaging observations
Eichler F, Grodd W, Grant E, Sessa M, Biffi A, Bley A, Kohlschütter A, Loes D, Kraegeloh-Mann I
AM J NEURORADIOL. 2009;30(10):1893-1897.

Mental retardation and inborn errors of metabolism.
García-Cazorla A, Wolf N, Serrano M, Moog U, Pérez-Dueñas B, Póo P, Pineda M, Campistol J, Hoffmann G
J INHERIT METAB DIS. 2009;32(5):597-608.

Inborn errors of metabolism and motor disturbances in children.
García-Cazorla A, Wolf N, Serrano M, Pérez-Dueñas B, Pineda M, Campistol J, Fernández-Alvarez E, Colomer J, DiMauro S, Hoffmann G
J INHERIT METAB DIS. 2009;32(5):618-629.

Respiratory response of malignant and placental cells to changes in oxygen concentration.
Garedew A, Kämmerer U, Singer D
RESP PHYSIOL NEUROBI. 2009;165(2-3):154-160.

Lysosomes.
Gieselmann V, Braulke T
BBA-MOL CELL RES. 2009;1793(4):603-604.

Proteomic analysis of mononuclear cells of patients with minimal-change nephrotic syndrome of childhood.
González E, Neuhaus T, Kemper M, Girardin E
NEPHROL DIAL TRANSPL. 2009;24(1):149-155.

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
Harting I, Neumaier-Probst E, Seitz A, Maier E, Assmann B, Baric I, Troncoso M, Mühlhausen C, Zschocke J, Boy N, Hoffmann G, Garbade Sven F, Kölker S
BRAIN. 2009;132(7):1764-1782.

Abnormal myelination in Angelman syndrome.
Harting I, Seitz A, Rating D, Sartor K, Zschocke J, Janssen B, Ebinger F, Wolf N
EUR J PAEDIATR NEURO. 2009;13(3):271-276.

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschütter A, Krätzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Rüschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nürnberg P, Gärtner J
NAT GENET. 2009;41(7):773-775.

Neuronal ceroid lipofuscinoses.
Jalanko A, Braulke T
BBA-MOL CELL RES. 2009;1793(4):697-709.

Urinary tract infections in children after renal transplantation.
John U, Kemper M
PEDIATR NEPHROL. 2009;24(6):1129-1136.

Mannose 6-phosphate receptor-dependent endocytosis of lysosomal enzymes is increased in sulfatide-storing kidney cells.
Klein D, Yaghootfam A, Matzner U, Koch B, Braulke T, Gieselmann V
BIOL CHEM. 2009;390(1):41-48.

Abetalipoproteinemia
Kohlschütter A
2009. Encyclopedia of Molecular Mechanisms of Disease. Springer Verlag London: 666-666.

Ataxia due to vitamin E deficiency
Kohlschütter A
2009. Encyclopedia of Molecular Mechanisms of Disease. Springer Verlag London: 165-166.

Metachromatische Leukodystrophie (MLD)
Kohlschütter A
2009. Neuropädiatrie: Evidenzbasierte Therapie. Elsevier, München: 102-104.

Neuronale Ceroid-Lipofuszinosen
Kohlschütter A
2009. Neuropädiatrie: Evidenzbasierte Therapie. Elsevier, München: 104-107.

Refsum disease
Kohlschütter A
2009. Encyclopedia of Molecular Mechanisms of Disease. Springer Verlag London: 1812-1813.

Neurometabolic disorders and epilepsy
Kohlschütter A, Plecko B
2009. Advanced Therapy in Epilepsy. BC Decker Inc: 92-98.

Towards understanding the neuronal ceroid lipofuscinoses.
Kohlschütter A, Schulz A
BRAIN DEV-JPN. 2009;31(7):499-502.

Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status.
Kohlschütter B, Ellerbrok M, Merkel M, Tchirikov M, Zschocke J, Santer R, Ullrich K
J INHERIT METAB DIS. 2009.

Mannose phosphorylation in health and disease.
Kollmann K, Pohl S, Marschner K, Encarnação M, Sakwa I, Stephan T, Poorthuis B, Lübke T, Müller-Loennies S, Storch S, Braulke T
EUR J CELL BIOL. 2009.

Uberbringen schlechter Nachrichten--Videogestützte Trainingseinheit für Medizinstudenten
Kopecky-Wenzel M, Maier E, Muntau A, Reinhardt D, Frank R
Z KINDER JUG-PSYCH. 2009;37(2):139-44.

The value of immunoprophylaxis for cytomegalovirus infection with intravenous immunoglobulin in pediatric liver transplant recipients receiving a low-dose immunosupressive regimen.
Krampe K, Briem-Richter A, Fischer L, Nashan B, Ganschow R
PEDIATR TRANSPLANT. 2009.

Effectiveness of Rex shunt in children with portal hypertension following liver transplantation or with primary portal hypertension.
Krebs-Schmitt D, Briem-Richter A, Grabhorn E, Burdelski M, Helmke K, Broering D, Ganschow R
PEDIATR TRANSPLANT. 2009.

Exploring the role of stem cells in cutaneous wound healing
Lau K, Paus R, Tiede S, Day P, Bayat A
EXP DERMATOL. 2009;18(11):921-33.

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
Lebrun A, Storch S, Rüschendorf F, Schmiedt M, Kyttälä A, Mole S, Kitzmüller C, Saar K, Mewasingh L, Boda V, Kohlschütter A, Ullrich K, Braulke T, Schulz A
HUM MUTAT. 2009;30(5):651-661.

Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control
Lindner M, Gramer G, Garbade S, Burgard P
J INHERIT METAB DIS. 2009;32(4):514-22.

Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.
Lukacs Z, Paulina N, Mengel E, Hartung R, Beck M, Deschauer M, Keil A, Santer R
J INHERIT METAB DIS. 2009.

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening
Maier E, Gersting S, Kemter K, Jank J, Reindl M, Messing D, Truger M, Sommerhoff C, Muntau A
HUM MOL GENET. 2009;18(9):1612-23.

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data
Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, Schiffmann R, Barbey F, Ries M
LANCET. 2009;374(9706):1986-1996.

Dystonia and deafness due to SUCLA2 defect: clinical course and biochemical markers in 16 children
Morava E, Steuerwald U, Carrozzo R, Kluijtmans L, Joensen F, Santer R, Dionisi-Vici C, Wevers R
MITOCHONDRION. 2009;9(6):438-442.

Characterization of the transcriptional regulation of the human MT1-MMP gene and association of risk reduction for focal-segmental glomerulosclerosis with two functional promoter SNPs.
Munkert A, Helmchen U, Kemper M, Bubenheim M, Stahl R, Harendza S
NEPHROL DIAL TRANSPL. 2009;24(3):735-742.

Glycosylation- and phosphorylation-dependent intracellular transport of lysosomal hydrolases.
Pohl S, Marschner K, Storch S, Braulke T
BIOL CHEM. 2009;390(7):521-527.

Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.
Pohl S, Tiede S, Castrichini M, Cantz M, Gieselmann V, Braulke T
BBA-MOL BASIS DIS. 2009;1792(3):221-225.

Outcome of severe unilateral cerebellar hypoplasia.
Poretti A, Limperopoulos C, Roulet-Perez E, Wolf N, Rauscher C, Prayer D, Müller A, Weissert M, Kotzaeridou U, Plessis D, Adre J, Huisman T, Boltshauser E
DEV MED CHILD NEUROL. 2009.

Endocrine controls of keratin expression
Ramot Y, Paus R, Tiede S, Zlotogorski A
BIOESSAYS. 2009;31(4):389-99.

Human hair follicle epithelium has an antimicrobial defence system that includes the inducible antimicrobial peptide psoriasin (S100A7) and RNase 7
Reithmayer K, Meyer K, Kleditzsch P, Tiede S, Uppalapati S, Gläser R, Harder J, Schröder J, Paus R
BRIT J DERMATOL. 2009;161(1):78-89.

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
Sarpong A, Schottmann G, Rüther K, Stoltenburg G, Kohlschütter A, Hübner C, Schuelke M
CLIN GENET. 2009.

The insulin receptor substrate of 53 kDa (IRSp53) limits hippocampal synaptic plasticity.
Sawallisch C, Berhörster K, Disanza A, Mantoani S, Kintscher M, Stoenica L, Dityatev A, Sieber S, Kindler S, Morellini F, Schweizer M, Boeckers T, Korte M, Scita G, Kreienkamp H
J BIOL CHEM. 2009;284(14):9225-9236.

Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS).
Scherber E, Beutel K, Ganschow R, Schulz A, Janka-Schaub G, Zur Stadt U
CLIN GENET. 2009.

B cell cytopenia in two brothers with hyper-IgD and periodic fever syndrome.
Sornsakrin M, Wenner K, Ganschow R
EUR J PEDIATR. 2009;168(7):825-831.

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.
Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner M, Boehles H, Das A, Haase C, Hennermann J, Karall D, de Klerk H, Knerr I, Koch H, Plecko B, Röschinger W, Schwab K, Scheible D, Wijburg F, Zschocke J, Mayatepek E, Wendel U
J INHERIT METAB DIS. 2009.

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.
Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner M, Boehles H, Das A, Haase C, Hennermann J, Karall D, de Klerk H, Knerr I, Koch H, Plecko B, Röschinger W, Schwab K, Scheible D, Wijburg F, Zschocke J, Mayatepek E, Wendel U
J INHERIT METAB DIS. 2009.

Aktuelle Ergebnisse notfallmedizinischer Forschung.
Spöhr F, Bernhard M, Meixensberger J, Singer D, Thiele H, Böttiger B
Notfallmedizin up2date. 2009;4:345-359.

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
Taanman J, Rahman S, Pagnamenta A, Morris A, Bitner-Glindzicz M, Wolf N, Leonard J, Clayton P, Schapira A
HUM MUTAT. 2009;30(2):248-254.

Basic fibroblast growth factor: a potential new therapeutic tool for the treatment of hypertrophic and keloid scars
Tiede S, Ernst N, Bayat A, Paus R, Tronnier V, Zechel C
ANN ANAT. 2009;191(1):33-44.

Nestin in human Skin: exclusive expression in intramesenchymal skin compartments and regulation by leptin
Tiede S, Kloepper J, Ernst N, Poeggeler B, Kruse C, Paus R
J INVEST DERMATOL. 2009;129(11):2711-20.

Nonviral in situ green fluorescent protein labeling and culture of primary, adult human hair follicle epithelial progenitor cells
Tiede S, Koop N, Kloepper J, Fässler R, Paus R
STEM CELLS. 2009;27(11):2793-803.

LuMPIS--a modified luminescence-based mammalian interactome mapping pull-down assay for the investigation of protein-protein interactions encoded by GC-low ORFs
Vizoso Pinto M, Villegas J, Peter J, Haase R, Haas J, Lotz A, Muntau A, Baiker A
PROTEOMICS. 2009;9(23):5303-8.

Similarities between forms of sheep scrapie and Creutzfeldt-Jakob disease are encoded by distinct prion types
Wemheuer W, Benestad S, Wrede A, Schulze-Sturm U, Wemheuer W, Hahmann U, Gawinecka J, Schütz E, Zerr I, Brenig B, Bratberg B, Andréoletti O, Schulz-Schaeffer W
AM J PATHOL. 2009;175(6):2566-73.

Early clinical experiences with the new influenza A (H1N1/09)
Winzer R, Kanig N, Schneitler S, Reuter S, Jensen B, Müller-Stöver I, Oh J, Adams O, Mayatepek E, Hengel H, Schneitler H, Häussinger D
DTSCH ARZTEBL INT. 2009;106(47):770-6.

Epilepsy and inborn errors of metabolism in children.
Wolf N, García-Cazorla A, Hoffmann G
J INHERIT METAB DIS. 2009;32(5):609-617.

AGC1 deficiency and cerebral hypomyelination.
Wolf N, Knaap v, Marjo S
NEW ENGL J MED. 2009;361(20):1997-1998.

Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features.
Wolf N, Rahman S, Schmitt B, Taanman J, Duncan A, Harting I, Wohlrab G, Ebinger F, Rating D, Bast T
EPILEPSIA. 2009;50(6):1596-1607.

Molecular analysis of the GlcNac-1-phosphotransferase.
Braulke T, Pohl S, Storch S
J INHERIT METAB DIS. 2008.

Splenic infarction in a patient hereditary spherocytosis, protein C deficiency and acute infectious mononucleosis
Breuer C, Janssen G, Laws H, Schaper J, Mayatepek E, Schroten H, Tenenbaum T
EUR J PEDIATR. 2008;167(12):1449-52.

Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.
Calado J, Sznajer Y, Metzger D, Rita A, Hogan M, Kattamis A, Scharf M, Tasic V, Greil J, Brinkert F, Kemper M, Santer R
NEPHROL DIAL TRANSPL. 2008;23(12):3874-3879.

Molecular order in mucolipidosis II and III nomenclature.
Cathey S, Kudo M, Stephan T, Raas-Rothschild A, Braulke T, Beck M, Taylor H, Canfield W, Leroy J, Neufeld E, McKusick V
AM J MED GENET A. 2008;146(4):512-513.

AP-1 and AP-3 mediate sorting of melanosomal and lysosomal membrane proteins into distinct post-Golgi trafficking pathways.
Chapuy B, Tikkanen R, Mühlhausen C, Wenzel D, von Figura K, Höning S
TRAFFIC. 2008;9(7):1157-1172.

MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients.
Ding X, Fiehler J, Kohlschütter B, Wittkugel O, Grzyska U, Zeumer H, Ullrich K
J MAGN RESON IMAGING. 2008;27(5):998-1004.

Rituximab: is replacement of cyclophosphamide and calcineurin inhibitors in steroid-dependent nephrotic syndrome possible?
Dötsch J, Müller-Wiefel D, Kemper M
PEDIATR NEPHROL. 2008;23(1):3-7.

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.
Engel K, Nuoffer J, Mühlhausen C, Klaus V, Largiadèr C, Tsiakas K, Santer R, Wermuth B, Häberle J
MOL GENET METAB. 2008;94(3):292-297.

Analysis of the CC chemokine receptor 5Delta32 polymorphism in pediatric liver transplant recipients.
Fischer-Maas L, Schneppenheim R, Oyen F, Grabhorn E, Briem-Richter A, Fischer L, Ganschow R
PEDIATR TRANSPLANT. 2008;12(7):769-772.

Disease progression in HIV-1 infected children and adolescents--results of a German-Austrian cohort study.
Funk M, Buchholz B, Notheis G, Neubert J, Feiterna-Sperling C, Ganschow R, Simon T, Hornemann F, Peters A, Rütschle H, Horneff G, Lechner E, Hanschmann K, Wintergerst U
EUR J MED RES. 2008;13(8):371-378.

Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability
Gersting S, Kemter K, Staudigl M, Messing D, Danecka M, Lagler F, Sommerhoff C, Roscher A, Muntau A
AM J HUM GENET. 2008;83(1):5-17.

Emergency liver transplantation in neonates with acute liver failure: long-term follow-up.
Grabhorn E, Briem-Richter A, Fischer L, Ganschow R
TRANSPLANTATION. 2008;86(7):932-936.

Neonates with severe infantile hepatic hemangioendothelioma: limitations of liver transplantation.
Grabhorn E, Briem-Richter A, Fischer L, Krebs-Schmitt D, Ganschow R
PEDIATR TRANSPLANT. 2008.

Organic anion transporters OAT1 and OAT4 mediate the high affinity transport of glutarate derivatives accumulating in patients with glutaric acidurias.
Hagos Y, Krick W, Braulke T, Mühlhausen C, Burckhardt G, Burckhardt B
PFLUG ARCH EUR J PHY. 2008;457(1):223-231.

Pharmacokinetics and immunodynamics of basiliximab in pediatric renal transplant recipients on mycophenolate mofetil comedication.
Höcker B, Kovarik J, Daniel V, Opelz G, Fehrenbach H, Holder M, Hoppe B, Hoyer P, Jungraithmayr T, Köpf-Shakib S, Laube G, Müller-Wiefel D, Offner G, Plank C, Schröder M, Weber L, Zimmerhackl L, Tönshoff B
TRANSPLANTATION. 2008;86(9):1234-1240.

Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis.
Jabs S, Quitsch A, Käkelä R, Koch B, Tyynelä J, Helmut B, Glatzel M, Walkley S, Saftig P, Vanier M, Braulke T
J NEUROCHEM. 2008;106(3):1415-1425.

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.
Jäggi L, Zurflüh M, Schuler A, Ponzone A, Porta F, Fiori L, Giovannini M, Santer R, Hoffmann G, Ibel H, Wendel U, Ballhausen D, Baumgartner M, Blau N
MOL GENET METAB. 2008;93(3):295-305.

Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1
Keyser B, Glatzel M, Stellmer F, Kortmann B, Lukacs Z, Kölker S, Sauer S, Muschol N, Herdering W, Thiem J, Goodman S, Koeller D, Ullrich K, Braulke T, Mühlhausen C
BBA-MOL BASIS DIS. 2008;1782(6):385-390.

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)
Keyser B, Mühlhausen C, Dickmanns A, Christensen E, Muschol N, Ullrich K, Braulke T
HUM MOL GENET. 2008;17(24):3854-3863.

International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes.
Khneisser I, Adib S, Megarbane A, Lukacs Z
J INHERIT METAB DIS. 2008.

Defined carboxy-terminal fragments of insulin-like growth factor (IGF) binding protein-2 exert similar mitogenic activity on cultured rat growth plate chondrocytes as IGF-I
Kiepe D, Van Der Pas A, Ciarmatori S, Ständker L, Schütt B, Hoeflich A, Hügel U, Oh J, Tönshoff B
ENDOCRINOLOGY. 2008;149(10):4901-11.

Immunophenotyping of the human bulge Region: the quest to define useful in situ markers for human epithelial hair follicle stem cells and their niche
Kloepper J, Tiede S, Brinckmann J, Reinhardt D, Meyer W, Faessler R, Paus R
EXP DERMATOL. 2008;17(7):592-609.

Q fever in young children, Ghana
Kobbe R, Kramme S, Kreuels B, Adjei S, Kreuzberg C, Panning M, Adjei O, Fleischer B, May J
EMERG INFECT DIS. 2008;14(2):344-6.

Simvastatin treatment shows no effect on the incidence of cerebral malaria or parasitemia during experimental malaria
Kobbe R, Schreiber N, May J, Jacobs T
ANTIMICROB AGENTS CH. 2008;52(4):1583-4.

Fatal familial insomnia: Clinical features and early identification
Krasnianski A, Bartl M, Sanchez Juan P, Heinemann U, Meissner B, Varges D, Schulze-Sturm U, Kretzschmar H, Schulz-Schaeffer W, Zerr I
ANN NEUROL. 2008;63(5):658-61.

Spatial variation of malaria incidence in young children from a geographically homogeneous area with high endemicity
Kreuels B, Kobbe R, Adjei S, Kreuzberg C, von Reden C, Bäter K, Klug S, Busch W, Adjei O, May J
J INFECT DIS. 2008;197(1):85-93.

Does proximal myotonic myopathy show anticipation?
Kruse B, Wöhrle D, Steinbach P, Gal A
HUM MUTAT. 2008;29(8):100-102.

Oral everolimus inhibits neointimal proliferation in prosthetic pulmonary valved stents in pigs.
Kuehne T, Pietzner K, Lehmkuhl H, Gelernter D, Peters B, Krueger J, Meinus C, Klimes K, Brinkert F, Ewert P, Berger F
J HEART VALVE DIS. 2008;17(4):465-472.

Reduced cerebral fluoro-L-dopamine uptake in adult patients suffering from phenylketonuria.
Landvogt C, Mengel E, Bartenstein P, Buchholz H, Schreckenberger M, Siessmeier T, Scheurich A, Feldmann R, Weglage J, Cumming P, Zepp F, Ullrich K
J CEREBR BLOOD F MET. 2008;28(4):824-831.

Elevated asymmetric dimethylarginine (ADMA) and inverse correlation between circulating ADMA and glomerular filtration rate in children with sporadic focal segmental glomerulosclerosis (FSGS).
Lücke T, Kanzelmeyer N, Chobanyan K, Tsikas D, Franke D, Kemper M, Ehrich J, Das A
NEPHROL DIAL TRANSPL. 2008;23(2):734-740.

X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype
Maier E, Mayerhofer P, Asheuer M, Köhler W, Rothe M, Muntau A, Roscher A, Holzinger A, Aubourg P, Berger J
BIOCHEM BIOPH RES CO. 2008;377(1):176-80.

Pregnancies in glycogen storage disease type Ia.
Martens D, Rake J, Schwarz M, Ullrich K, Weinstein D, Merkel M, Sauer P, Smit G
AM J OBSTET GYNECOL. 2008;198(6):1-7.

Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus.
Martin-Subero J, Bibikova M, Mackay D, Wickham-Garcia E, Sellami N, Richter J, Santer R, Caliebe A, Fan J, Temple I, Siebert R
AM J MED GENET A. 2008;146(24):3227-3229.

Therapeutic and prophylactic effect of intermittent preventive anti-malarial treatment in infants (IPTi) from Ghana and Gabon
May J, Adjei S, Busch W, Gabor J, Issifou S, Kobbe R, Kreuels B, Lell B, Schwarz N, Adjei O, Kremsner P, Grobusch M
MALARIA J. 2008;7:198.

The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
Meyer A, Kossow K, Gal A, Steglich C, Mühlhausen C, Ullrich K, Braulke T, Muschol N
HUM MUTAT. 2008;29(5):770.

Creatine uptake in mouse hearts with genetically altered creatine levels.
Michiel T, Makinen K, Sebag-Montefiore L, Hunyor I, Fischer A, Wallis J, Isbrandt D, Lygate C, Neubauer S
J MOL CELL CARDIOL. 2008;45(3):453-459.

Membrane translocation of glutaric acid and its derivatives.
Mühlhausen C, Burckhardt B, Hagos Y, Burckhardt G, Keyser B, Lukacs Z, Ullrich K, Braulke T
J INHERIT METAB DIS. 2008.

The clinical course of steroid-sensitive childhood nephrotic syndrome is associated with a functional IL12B promoter polymorphism.
Müller-Berghaus J, Kemper M, Hoppe B, Querfeld U, Müller-Wiefel D, Morahan G, Schadendorf D, Tenbrock K
NEPHROL DIAL TRANSPL. 2008;23(12):3841-3844.

Cinacalcet does not affect longitudinal growth but increases body weight gain in experimental uraemia
Nakagawa K, Pérez E, Oh J, Santos F, Geldyyev A, Gross M, Schaefer F, Schmitt C
NEPHROL DIAL TRANSPL. 2008;23(9):2761-7.

Efficacy and safety of basiliximab in pediatric renal transplant patients receiving cyclosporine, mycophenolate mofetil, and steroids.
Offner G, Toenshoff B, Höcker B, Krauss M, Bulla M, Cochat P, Fehrenbach H, Fischer W, Foulard M, Hoppe B, Hoyer P, Jungraithmayr T, Klaus G, Latta K, Leichter H, Mihatsch M, Misselwitz J, Montoya C, Müller-Wiefel D, Neuhaus T, Pape L, Querfeld U, Plank C, Schwarke D, Wygoda S, Zimmerhackl L
TRANSPLANTATION. 2008;86(9):1241-1248.

Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis.
Prietsch V, Arnold S, Kraegeloh-Mann I, Kuehr J, Santer R
NEUROPEDIATRICS. 2008;39(1):51-54.

Cardiac structure and function during ageing in energetically compromised Guanidinoacetate N-methyltransferase (GAMT)-knockout mice - a one year longitudinal MRI study.
Schneider J, Stork L, Bell J, Michiel T, Isbrandt D, Clarke K, Watkins H, Lygate C, Neubauer S
J CARDIOVASC MAGN R. 2008;10(1):9.

High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor gamma: implications for the pathophysiology of phenylketonuria.
Schumacher U, Lukacs Z, Kaltschmidt C, Freudlsperger C, Schulz D, Kompisch K, Müller R, Rudolph T, Santer R, Lorke D, Ullrich K
NEUROBIOL DIS. 2008;32(3):385-390.

Pharmacokinetic and pharmacodynamic properties of oral L-citrulline and L-arginine: impact on nitric oxide metabolism.
Schwedhelm E, Maas R, Freese R, Jung D, Lukacs Z, Jambrecina A, Spickler W, Schulze F, Böger R
BRIT J CLIN PHARMACO. 2008;65(1):51-59.

Multiple post-translational modifications of mouse insulin-like growth factor binding protein-6 expressed in epithelial Madin-Darby canine kidney cells.
Shalamanova L, Kübler B, Storch S, Scharf J, Braulke T
MOL CELL ENDOCRINOL. 2008;295(1-2):18-23.

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
Spinazzola A, Santer R, Akman O, Tsiakas K, Schaefer H, Ding X, Karadimas C, Shanske S, Ganesh J, Salvatore D, Zeviani M
ARCH NEUROL-CHICAGO. 2008;65(8):1108-1113.

Liver transplantation for fulminant hepatic failure in infancy: A single center experience.
Strauss A, Grabhorn E, Sornsakrin M, Briem-Richter A, Fischer L, Nashan B, Ganschow R
PEDIATR TRANSPLANT. 2008.

Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients.
Thierfelder N, Demuth I, Burghardt N, Schmelz K, Sperling K, Chrzanowska K, Seemanova E, Digweed M
EUR J CELL BIOL. 2008;87(2):111-121.

SIX2 and BMP4 mutations associate with anomalous kidney development
Weber S, Taylor J, Winyard P, Baker K, Sullivan-Brown J, Schild R, Knüppel T, Zurowska A, Caldas-Alfonso A, Litwin M, Emre S, Ghiggeri G, Bakkaloglu A, Mehls O, Antignac C, Network E, Schaefer F, Burdine R
J AM SOC NEPHROL. 2008;19(5):891-903.

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.
Winchester B, Bali D, Bodamer O, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumi K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen O, Wuyts B, Zakharova E, Keutzer J
MOL GENET METAB. 2008;93(3):275-281.

Initial report from the Hunter Outcome Survey
Wraith J, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J, , Muschol N
GENET MED. 2008;10(7):508-16.

Gram-negative peritonitis in children undergoing long-term peritoneal dialysis.
Zurowska A, Feneberg R, Warady B, Zimmering M, Maria M, Testa S, Calyskan S, Drozdz D, Salusky I, Kemper M, Ekim M, Verrina E, Misselwitz J, Schaefer F
AM J KIDNEY DIS. 2008;51(3):455-462.

Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria
Beblo S, Reinhardt H, Demmelmair H, Muntau A, Koletzko B
J PEDIATR-US. 2007;150(5):479-84.

Clinical relevance of autoantibodies after pediatric liver transplantation.
Briem-Richter A, Grabhorn E, Helmke K, Manns M, Ganschow R, Burdelski M
CLIN TRANSPLANT. 2007;21(3):427-432.

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Sivia D, Bertini E, Franke B, Kluijtmans L, Meschini M, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli F, van Rooij A, Diana V, Morava E, Wevers R
BRAIN. 2007;130(3):862-874.

Prevention of plasticity of endocannabinoid signaling inhibits persistent limbic hyperexcitability caused by developmental seizures
Chen K, Neu A, Howard A, Földy C, Echegoyen J, Hilgenberg L, Smith M, Mackie K, Soltesz I
J NEUROSCI. 2007;27(1):46-58.

Three reactive compartments in venous malformations
Ebenebe C, Diehl S, Bartnick K, Dörge H, Becker J, Schweigerer L, Wilting J
THROMB HAEMOSTASIS. 2007;97(5):763-73.

Homeostatic plasticity studied using in vivo hippocampal activity-blockade: synaptic scaling, intrinsic plasticity and age-dependence
Echegoyen J, Neu A, Graber K, Soltesz I
PLOS ONE. 2007;2(8):e700.

Liver transplantation in children with progressive familial intrahepatic cholestasis.
Englert C, Grabhorn E, Briem-Richter A, Rogiers X, Burdelski M, Ganschow R
TRANSPLANTATION. 2007;84(10):1361-1363.

Cell type-specific gating of perisomatic inhibition by cholecystokinin
Földy C, Lee S, Szabadics J, Neu A, Soltesz I
NAT NEUROSCI. 2007;10(9):1128-30.

[Leukodystrophies: diseases of white matter of the nervous system]
Gärtner J, Kohlschütter A, Gieselmann V
BUNDESGESUNDHEITSBLA. 2007;50(12):1531-1540.

Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up.
Görg M, Wilck W, Granitzny B, Suerken A, Lukacs Z, Ding X, Schulte-Markwort M, Kohlschütter A
J CHILD NEUROL. 2007;22(9):1139-1142.

Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
Haas D, Garbade S, Vohwinkel C, Muschol N, Trefz F, Penzien J, Zschocke J, Hoffmann G, Burgard P
J INHERIT METAB DIS. 2007;30(3):375-387.

Central laboratory reassessment of IGF-I, IGF-binding protein-3, and GH serum concentrations measured at local treatment centers in growth-impaired children: implications for the agreement between outpatient screening and the results of somatotropic axis functional testing.
Hauffa B, Lehmann N, Bettendorf M, Mehls O, Dörr H, Stahnke N, Steinkamp H, Said E, Ranke M
EUR J ENDOCRINOL. 2007;157(5):597-603.

In vivo magnetic resonance spectroscopy of transgenic mice with altered expression of guanidinoacetate methyltransferase and creatine kinase isoenzymes.
Heerschap A, Kan H, Nabuurs C, Renema W, Isbrandt D, Wieringa B
Subcell Biochem. 2007;46:119-148.

Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.
Heine C, Quitsch A, Storch S, Martin Y, Lonka L, Lehesjoki A, Mole S, Braulke T
MOL MEMBR BIOL. 2007;24(1):74-87.

Early peristalsis following epidural analgesia during abdominal surgery in an extremely low birth weight infant
Hoehn T, Jetzek-Zader M, Blohm M, Mayatepek E
PEDIATR ANESTH. 2007;17(2):176-9.

Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3.
Hoffman T, Blanco E, Lane A, Galvin-Parton P, Gadi I, Santer R, DeLeón D, Stanley C, Wilson T
CLIN GENET. 2007;71(6):551-557.

Feature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.
Ho S, Lukacs Z, Hoffmann G, Lindner M, Wetter T
CLIN CHEM. 2007;53(7):1330-1337.

Opposing modifications in intrinsic currents and synaptic inputs in post-traumatic mossy cells: evidence for single-cell homeostasis in a hyperexcitable network
Howard A, Neu A, Morgan R, Echegoyen J, Soltesz I
J NEUROPHYSIOL. 2007;97(3):2394-409.

Activated protein C protects against diabetic nephropathy by inhibiting endothelial and podocyte apoptosis
Isermann B, Vinnikov I, Madhusudhan T, Herzog S, Kashif M, Blautzik J, Corat M, Zeier M, Blessing E, Oh J, Gerlitz B, Berg D, Grinnell B, Chavakis T, Esmon C, Weiler H, Bierhaus A, Nawroth P
NAT MED. 2007;13(11):1349-58.

Creatine uptake in brain and skeletal muscle of mice lacking guanidinoacetate methyltransferase assessed by magnetic resonance spectroscopy.
Kan H, Meeuwissen E, Asten v, Jack J, Isbrandt D, Isbrandt D, Heerschap A
J APPL PHYSIOL. 2007;102(6):2121-2127.

Favorable long-term outcome of nephrotic syndrome after allogeneic hematopoietic stem cell transplantation.
Kemper M, Güngör T, Halter J, Schanz U, Neuhaus T
CLIN NEPHROL. 2007;67(1):5-11.

Prognosis of antenatally diagnosed oligohydramnios of renal origin.
Kemper M, Müller-Wiefel D
EUR J PEDIATR. 2007;166(5):393-398.

Use of monoclonal antibodies to assess expression of anaphylatoxin receptors in tubular epithelial cells of human, murine and rat kidneys
Kiafard Z, Tschernig T, Schweyer S, Bley A, Neumann D, Zwirner J
IMMUNOBIOLOGY. 2007;212(2):129-39.

Antenatal oligohydramnios of renal origin: long-term outcome.
Klaassen I, Neuhaus T, Müller-Wiefel D, Kemper M
NEPHROL DIAL TRANSPL. 2007;22(2):432-439.

Malaria incidence and efficacy of intermittent preventive treatment in infants (IPTi)
Kobbe R, Adjei S, Kreuzberg C, Kreuels B, Thompson B, Thompson P, Marks F, Busch W, Tosun M, Schreiber N, Opoku E, Adjei O, Meyer C, May J
MALARIA J. 2007;6:163.

A randomized controlled trial of extended intermittent preventive antimalarial treatment in infants
Kobbe R, Kreuzberg C, Adjei S, Thompson B, Langefeld I, Thompson P, Abruquah H, Kreuels B, Ayim M, Busch W, Marks F, Amoah K, Opoku E, Meyer C, Adjei O, May J
CLIN INFECT DIS. 2007;45(1):16-25.

Chloroquine-resistant malaria in Malawi
Kobbe R, Meyer C, May J
NEW ENGL J MED. 2007;356(8):868; author reply 869.

Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.
Kölker S, Garbade S, Boy N, Maier E, Meissner T, Mühlhausen C, Hennermann J, Lücke T, Häberle J, Baumkötter J, Haller W, Muller E, Zschocke J, Burgard P, Hoffmann G
PEDIATR RES. 2007;62(3):357-363.

Selective late steroid withdrawal after renal transplantation.
Laube G, Falger J, Kemper M, Zingg-Schenk A, Neuhaus T
PEDIATR NEPHROL. 2007;22(11):1947-1952.

Angiotensin-converting enzyme inhibitor fetopathy: long-term outcome.
Laube G, Kemper M, Schubiger G, Neuhaus T
ARCH DIS CHILD-FETAL. 2007;92(5):402-403.

De novo autoimmune hepatitis after liver transplantation.
Lohse A, Weiler-Normann C, Burdelski M
HEPATOL RES. 2007;37(3):462.

Developmental changes in the L-arginine/nitric oxide pathway from infancy to adulthood: plasma asymmetric dimethylarginine levels decrease with age.
Lücke T, Kanzelmeyer N, Kemper M, Tsikas D, Das A
CLIN CHEM LAB MED. 2007;45(11):1525-1530.

[Maternal vitamin B12 deficiency: cause for neurological symptoms in infancy]
Lücke T, Korenke G, Poggenburg I, Bentele K, Das A, Hartmann H
Z GEBURTSH NEONATOL. 2007;211(4):157-161.

Direct comparison of enzyme measurements from dried blood and leukocytes from male and female Fabry disease patients.
Lukacs Z, Hartung R, Beck M, Keil A, Mengel E
J INHERIT METAB DIS. 2007;30(4):614.

CNS or bone marrow involvement as risk factors for poor survival in post-transplantation lymphoproliferative disorders in children after solid organ transplantation.
Maecker B, Jack T, Zimmermann M, Abdul-Khaliq H, Burdelski M, Fuchs A, Hoyer P, Koepf S, Kraemer U, Laube G, Müller-Wiefel D, Netz H, Pohl M, Toenshoff B, Wagner H, Wallot M, Welte K, Melter M, Offner G, Klein C
J CLIN ONCOL. 2007;25(31):4902-4908.

Pneumococcal conjugate vaccine provides early protective antibody responses in children after related and unrelated allogeneic hematopoietic stem cell transplantation.
Meisel R, Kuypers L, Dirksen U, Schubert R, Gruhn B, Strauss G, Beutel K, Groll A, Duffner U, Blütters-Sawatzki R, Holter W, Feuchtinger T, Grüttner H, Schroten H, Zielen S, Ohmann C, Laws H, Dilloo D
BLOOD. 2007;109(6):2322-2326.

[Food consumption of children and adolescents in Germany. Results of the German Health Interview and Examination Survey for Children and Adolescents (KiGGS)]
Mensink G, Kleiser C, Briem-Richter A
BUNDESGESUNDHEITSBLA. 2007;50(5-6):609-623.

Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).
Meyer A, Kossow K, Gal A, Mühlhausen C, Ullrich K, Braulke T, Muschol N
PEDIATRICS. 2007;120(5):1255-1261.

Postsynaptic origin of CB1-dependent tonic inhibition of GABA release at cholecystokinin-positive basket cell to pyramidal cell synapses in the CA1 region of the rat hippocampus
Neu A, Földy C, Soltesz I
J PHYSIOL-LONDON. 2007;578(Pt 1):233-47.

Obesity and other clinical endpoints in steroid-sensitive nephrotic syndrome.
Neuhaus T, Rüth E, Kemper M
PEDIATR NEPHROL. 2007;22(3):472-473.

Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.
Paesold-Burda P, Baumgartner M, Santer R, Bosshard N, Steinmann B
J INHERIT METAB DIS. 2007;30(6):896-902.

Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue.
Pohl S, Mitchison H, Kohlschütter A, van Diggelen O, Braulke T, Storch S
J NEUROCHEM. 2007;103(6):2177-2188.

Worldwide variation of dialysis-associated peritonitis in children.
Schaefer F, Feneberg R, Aksu N, Donmez O, Sadikoglu B, Alexander S, Mir S, Ha I, Fischbach M, Simkova E, Watson A, Möller K, von Baum H, Warady B
KIDNEY INT. 2007;72(11):1374-1379.

High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.
Schilling A, Mülhausen C, Lehmann W, Santer R, Schinke T, Rueger J, Amling M
OSTEOPOROSIS INT. 2007;18(5):659-669.

Immune responses after single-dose sulphadoxine-pyrimethamine indicate underestimation of protective efficacy of intermittent preventive treatment in infants
Schreiber N, Kobbe R, Adjei S, Adjei O, Klinkert M, May J
TROP MED INT HEALTH. 2007;12(10):1157-63.

[Why 37 degrees C? Evolutionary fundamentals of thermoregulation]
Singer D
ANAESTHESIST. 2007;56(9):899-902, 904-906.

Perinatal adaptation in mammals: the impact of metabolic rate.
Singer D, Mühlfeld C
COMP BIOCHEM PHYS A. 2007;148(4):780-784.

3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3.
Stellmer F, Keyser B, Burckhardt B, Koepsell H, Streichert T, Glatzel M, Jabs S, Thiem J, Herdering W, Koeller D, Goodman S, Lukacs Z, Ullrich K, Burckhardt G, Braulke T, Mühlhausen C
J MOL MED. 2007;85(7):763-770.

C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes.
Storch S, Pohl S, Quitsch A, Falley K, Braulke T
TRAFFIC. 2007;8(4):431-444.

Human dermis-derived cells demonstrate strong features of controlled mesodermal differentiation
Tiede S, Danner S, Tronnier V, Paus R, Zechel C
J STEM CELLS REGEN. 2007;2(1):137-8.

Alteration of the insulin-like growth factor axis during in vitro differentiation of the human osteosarcoma cell line HOS 58.
Viereck V, Siggelkow H, Pannem R, Braulke T, Scharf J, Kübler B
J CELL BIOCHEM. 2007;102(1):28-40.

Peritonitis in children who receive long-term peritoneal dialysis: a prospective evaluation of therapeutic guidelines.
Warady B, Feneberg R, Verrina E, Flynn J, Müller-Wiefel D, Besbas N, Zurowska A, Aksu N, Fischbach M, Sojo E, Donmez O, Sever L, Sirin A, Alexander S, Schaefer F
J AM SOC NEPHROL. 2007;18(7):2172-2179.

Blood-brain barrier permeability to the neuroprotectant oxyresveratrol
Breuer C, Wolf G, Andrabi S, Lorenz P, Horn T
NEUROSCI LETT. 2006;393(2-3):113-8.

C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon.
Choe C, Schulze-Bahr E, Neu A, Xu J, Zhu Z, Sauter K, Bähring R, Priori S, Guicheney P, Mönnig G, Neapolitano C, Heidemann J, Clancy C, Pongs O, Isbrandt D
HUM MOL GENET. 2006;15(19):2888-2902.

Liver transplantation in children with Alagille syndrome: indications and outcome.
Englert C, Grabhorn E, Burdelski M, Ganschow R
PEDIATR TRANSPLANT. 2006;10(2):154-158.

Diaphragmatic hernia resulting in enterothorax following pediatric liver transplantation: a rare complication.
Englert C, Helmke K, Briem-Richter A, Beckmann M, Rogiers X, Burdelski M, Ganschow R
TRANSPLANTATION. 2006;82(4):574-576.

Presynaptic, activity-dependent modulation of cannabinoid type 1 receptor-mediated inhibition of GABA release
Földy C, Neu A, Jones M, Soltesz I
J NEUROSCI. 2006;26(5):1465-9.

Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.
Freisinger P, Fütterer N, Lankes E, Gempel K, Berger T, Spalinger J, Hoerbe A, Schwantes C, Lindner M, Santer R, Burdelski M, Schaefer H, Setzer B, Walker U, Horváth R
ARCH NEUROL-CHICAGO. 2006;63(8):1129-1134.

Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome.
Furlan F, Santer R, Vismara E, Santus F, Sersale G, Menni F, Parini R
J INHERIT METAB DIS. 2006;29(5):685.

Tacrolimus-induced cholestatic syndrome following pediatric liver transplantation and steroid-resistant graft rejection.
Ganschow R, Albani J, Grabhorn E, Briem-Richter A, Burdelski M
PEDIATR TRANSPLANT. 2006;10(2):220-224.

Neonatal hemochromatosis: long-term experience with favorable outcome.
Grabhorn E, Briem-Richter A, Burdelski M, Rogiers X, Ganschow R
PEDIATRICS. 2006;118(5):2060-2065.

In vitro sulfation of N-acetyllactosaminide by soluble recombinant human beta-Gal-3'-sulfotransferase
Greimel P, Jabs S, Storch S, Cherif S, Honke K, Braulke T, Thiem J
CARBOHYD RES. 2006;341(7):918-24.

Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro.
Hartwig C, Gal A, Santer R, Ullrich K, Finckh U, Kreienkamp H
FEBS LETT. 2006;580(14):3489-3492.

Long-term evaluation of cyclosporine and tacrolimus based immunosuppression in pediatric liver transplantation.
Hasenbein W, Albani J, Englert C, Spehr A, Grabhorn E, Kemper M, Burdelski M, Ganschow R
PEDIATR TRANSPLANT. 2006;10(8):938-942.

Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding
Hoffmann B, Schwahn B, Knobbe C, Vogel M, Blohm M, Mayatepek E, Wendel U
NEUROPEDIATRICS. 2006;37(3):163-5.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr J, Santer R, Tesarova M, Zeman J, Udd B, Taylor R, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery P
BRAIN. 2006;129(7):1674-1684.

High prevalence of febrile urinary tract infections after paediatric renal transplantation.
John U, Everding A, Kuwertz-Bröking E, Bulla M, Müller-Wiefel D, Misselwitz J, Kemper M
NEPHROL DIAL TRANSPL. 2006;21(11):3269-3274.

Seasonal variation and high multiplicity of first Plasmodium falciparum infections in children from a holoendemic area in Ghana, West Africa
Kobbe R, Neuhoff R, Marks F, Adjei S, Langefeld I, von Reden C, Adjei O, Meyer C, May J
TROP MED INT HEALTH. 2006;11(5):613-9.

Towards the development of a pragmatic technique for isolating and differentiating nestin-positive cells from human scalp skin into neuronal and glial cell populations: generating neurons from human skin?
Kruse C, Bodó E, Petschnik A, Danner S, Tiede S, Paus R
EXP DERMATOL. 2006;15(10):794-800.

Transplantation of infant en bloc kidneys into paediatric recipients.
Laube G, Kellenberger C, Kemper M, Weber M, Neuhaus T
PEDIATR NEPHROL. 2006;21(3):408-412.

Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.
Lukacs Z, Santer R
MOL NUTR FOOD RES. 2006;50(4-5):443-450.

Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I.
Mühlhausen C, Ott N, Chalajour F, Tilki D, Freudenberg F, Shahhossini M, Thiem J, Ullrich K, Braulke T, Ergün S
PEDIATR RES. 2006;59(2):196-202.

A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27.
Neubauer B, Stefanova I, Hübner C, Neumaier-Probst E, Bohl J, Oppermann H, Stö H, Hahn A, Stephani U, Kohlschütter A, Gal A
NEUROLOGY. 2006;67(4):587-591.

Body growth after combined liver-kidney transplantation in children with primary hyperoxaluria type 1.
Nissel R, Latta K, Gagnadoux M, Kelly D, Hulton S, Kemper M, Ruder H, Söderdahl G, Otte J, Cochat P, Roquet O, Jamieson N, Haffner D
TRANSPLANTATION. 2006;82(1):48-54.

[Obstructive nephropathy]
Ringert R, Riedmiller H, Rübben H, Rose A, Hoyer P, Conrad S, Hoang-Böhm J, Müller-Wiefel D
UROLOGE. 2006;45(4):225-228.

[The role of the ophthalmologist in the management of juvenile neuronal ceroid lipofuscinosis]
Rüther K, Gal A, Kohlschütter A
KLIN MONATSBL AUGENH. 2006;223(6):542-544.

Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency
Sauer S, Okun J, Fricker G, Mahringer A, Müller I, Crnic L, Mühlhausen C, Hoffmann G, Hörster F, Goodman S, Harding C, Koeller D, Kölker S
J NEUROCHEM. 2006;97(3):899-910.

The CLN9 protein, a regulator of dihydroceramide synthase.
Schulz A, Mousallem T, Venkataramani M, Persaud-Sawin D, Zucker A, Luberto C, Bielawska A, Bielawski J, Holthuis J, Jazwinski S, Kozhaya L, Dbaibo G, Boustany R
J BIOL CHEM. 2006;281(5):2784-2794.

[Long-term outcome of preterm neonates: the message behind the statistics]
Singer D
Z GEBURTSH NEONATOL. 2006;210(2):50-59.

Hyperuricemia and gout following pediatric renal transplantation.
Spartà G, Kemper M, Neuhaus T
PEDIATR NEPHROL. 2006;21(12):1884-1888.

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
Stadler S, Polanetz R, Maier E, Heidenreich S, Niederer B, Mayerhofer P, Lagler F, Koch H, Santer R, Fletcher J, Ranieri E, Das A, Spiekerkötter U, Schwab K, Pötzsch S, Marquardt I, Hennermann J, Knerr I, Mercimek-Mahmutoglu S, Kohlschmidt N, Liebl B, Fingerhut R, Olgemöller B, Muntau A, Roscher A, Röschinger W
HUM MUTAT. 2006;27(8):748-759.

Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG
Tiede S, Cantz M, Spranger J, Braulke T
HUM MUTAT. 2006;27(8):830-1.

Lhx2--decisive role in epithelial stem cell maintenance, or just the "tip of the iceberg"?
Tiede S, Paus R
BIOESSAYS. 2006;28(12):1157-60.

Percutaneous endoscopic gastrostomy in children on peritoneal dialysis.
von Schnakenburg C, Feneberg R, Plank C, Zimmering M, Arbeiter K, Bald M, Fehrenbach H, Griebel M, Licht C, Konrad M, Timmermann K, Kemper M
PERITON DIALYSIS INT. 2006;26(1):69-77.

A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1.
Williams E, Kemper M, Rumsby G
AM J KIDNEY DIS. 2006;48(3):481-483.

Diagnosis of the neuronal ceroid lipofuscinoses: an update.
Williams R, Aberg L, Autti T, Goebel H, Kohlschütter A, Lönnqvist T
BBA-BIOMEMBRANES. 2006;1762(10):865-872.

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.
Aretz S, Stienen D, Uhlhaas S, Loff S, Back W, Pagenstecher C, McLeod D, Graham G, Mangold E, Santer R, Propping P, Friedl W
HUM MUTAT. 2005;26(6):513-519.

Synaptopodin regulates the actin-bundling activity of alpha-actinin in an isoform-specific manner
Asanuma K, Kim K, Oh J, Giardino L, Chabanis S, Faul C, Reiser J, Mundel P
J CLIN INVEST. 2005;115(5):1188-98.

Cumulative incidence rates of the mucopolysaccharidoses in Germany.
Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C, Kohlschütter A, Kampmann C, Beck M
J INHERIT METAB DIS. 2005;28(6):1011-1017.

Elements of diabetic nephropathy in a patient with GLUT 2 deficiency.
Berry G, Baynes J, Wells-Knecht K, Szwergold B, Santer R
MOL GENET METAB. 2005;86(4):473-477.

Acute purulent pericarditis in pneumococcal meningitis
Blohm M, Schroten H, Heusch A, Christaras A, Micek M, Wintgens J, Mayatepek E, Hoehn T
INTENS CARE MED. 2005;31(8):1142.

Contribution of N- and C-terminal Kv4.2 channel domains to KChIP interaction [corrected]
Callsen B, Isbrandt D, Sauter K, Hartmann L, Pongs O, Bähring R
J PHYSIOL-LONDON. 2005;568(2):397-412.

No association of histamine- N-methyltransferase polymorphism with asthma or bronchial hyperresponsiveness in two German pediatric populations
Deindl P, Peri-Jerkan S, Deichmann K, Niggemann B, Lau S, Sommerfeld C, Sengler C, Müller S, Wahn U, Nickel R, Heinzmann A
PEDIAT ALLERG IMM-UK. 2005;16(1):40-2.

Promotion of importin alpha-mediated nuclear import by the phosphorylation-dependent binding of cargo protein to 14-3-3
Faul C, Hüttelmaier S, Oh J, Hachet V, Singer R, Mundel P
J CELL BIOL. 2005;169(3):415-24.

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, Parini R, Simonati A, Santer R, Zeviani M
BRAIN. 2005;128(4):723-731.

Hypogammaglobulinemia in pediatric liver transplant recipients.
Ganschow R, Englert C, Grabhorn E, Briem-Richter A, Hinrichs B, Broering D, Rogiers X, Burdelski M
PEDIATR TRANSPLANT. 2005;9(2):215-219.

Long-term results of basiliximab induction immunosuppression in pediatric liver transplant recipients.
Ganschow R, Grabhorn E, Schulz A, Alexander V, Rogiers X, Burdelski M
PEDIATR TRANSPLANT. 2005;9(6):741-745.

Primary hyperoxaluria--the German experience.
Hoppe B, Latta K, von Schnakenburg C, Kemper M
AM J NEPHROL. 2005;25(3):276-281.

Lower force and impaired performance during high-intensity electrical stimulation in skeletal muscle of GAMT-deficient knockout mice.
Kan H, Buse-Pot T, Peco R, Isbrandt D, Heerschap A, de Haan A
AM J PHYSIOL-CELL PH. 2005;289(1):113-119.

Role of Pex19p in the targeting of PMP70 to peroxisome
Kashiwayama Y, Asahina K, Shibata H, Morita M, Muntau A, Roscher A, Wanders R, Shimozawa N, Sakaguchi M, Kato H, Imanaka T
Biochim Biophys Acta. 2005;1746(2):116-28.

Concurrent or sequential liver and kidney transplantation in children with primary hyperoxaluria type 1?
Kemper M, Markus J
PEDIATR TRANSPLANT. 2005;9(6):693-696.

Changes of lymphocyte populations in pediatric steroid-sensitive nephrotic syndrome are more pronounced in remission than in relapse.
Kemper M, Zepf K, Klaassen I, Link A, Müller-Wiefel D
AM J NEPHROL. 2005;25(2):132-137.

Pediatric transplantation: the Hamburg experience.
Kim J, Grotelüschen R, Mueller T, Ganschow R, Bicak T, Wilms C, Mueller L, Helmke K, Burdelski M, Rogiers X, Broering D
TRANSPLANTATION. 2005;79(9):1206-1209.

Impaired autofeedback regulation of hypothalamic norepinephrine release in experimental uremia
Klein K, Daschner M, Vogel M, Oh J, Feuerstein T, Schaefer F
J AM SOC NEPHROL. 2005;16(7):2081-7.

Editorial: antifolates in prevention of HIV-associated opportunistic infections and in intermittent preventive treatment of malaria in Africa
Kobbe R, Marks F, May J, Meyer C
TROP MED INT HEALTH. 2005;10(4):293-4.

Simultaneous determination of HIV antibodies, hepatitis C antibodies, and hepatitis B antigens in dried blood spots--a feasibility study using a multi-analyte immunoassay.
Lukacs Z, Dietrich A, Ganschow R, Kohlschütter A, Kruithof R
CLIN CHEM LAB MED. 2005;43(2):141-145.

The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.
Lukacs Z, Keil A, Kohlschütter A, Beck M, Mengel E
J INHERIT METAB DIS. 2005;28(5):803-805.

Parasitological rebound effect and emergence of pyrimethamine resistance in Plasmodium falciparum after single-dose sulfadoxine-pyrimethamine
Marks F, von Kalckreuth V, Kobbe R, Adjei S, Adjei O, Horstmann R, Meyer C, May J
J INFECT DIS. 2005;192(11):1962-5.

Reduced inotropic reserve and increased susceptibility to cardiac ischemia/reperfusion injury in phosphocreatine-deficient guanidinoacetate-N-methyltransferase-knockout mice.
Michiel T, Lygate C, Fischer A, Schneider J, Sang A, Hulbert K, Sebag-Montefiore L, Watkins H, Clarke K, Isbrandt D, Wallis J, Neubauer S
CIRCULATION. 2005;111(19):2477-2485.

Electron microscopy and microcalorimetry of the postnatal rat heart (Rattus norvegicus).
Mühlfeld C, Singer D, Engelhardt N, Richter J, Schmiedl A
COMP BIOCHEM PHYS A. 2005;141(3):310-318.

Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia
Mühlhausen C, Schneppenheim R, Budde U, Merkel M, Muschol N, Ullrich K, Santer R
J INHERIT METAB DIS. 2005;28(6):945-950.

Psychosocial impact of living-related kidney transplantation on donors and partners.
Neuhaus T, Wartmann M, Weber M, Landolt M, Laube G, Kemper M
PEDIATR NEPHROL. 2005;20(2):205-209.

Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.
Peters H, Hu H, Pongs O, Storm J, Isbrandt D
NAT NEUROSCI. 2005;8(1):51-60.

Hepatoblastoma in a child with progressive familial intrahepatic cholestasis.
Richter A, Grabhorn E, Briem-Richter A, Schaefer H, Burdelski M, Ganschow R
PEDIATR TRANSPLANT. 2005;9(6):805-808.

Psychosocial rehabilitation and satisfaction with life in adults with childhood-onset of end-stage renal disease
Rosenkranz J, Reichwald-Klugger E, Oh J, Turzer M, Mehls O, Schaefer F
PEDIATR NEPHROL. 2005;20(9):1288-94.

Children with steroid-sensitive nephrotic syndrome come of age: long-term outcome.
Rüth E, Kemper M, Leumann E, Laube G, Neuhaus T
J PEDIATR-US. 2005;147(2):202-207.

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
Santer R, Gokçay G, Demirkol M, Gal A, Lukacs Z
J INHERIT METAB DIS. 2005;28(2):137-140.

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.
Santer R, Rischewski J, von Weihe M, Niederhaus M, Schneppenheim S, Baerlocher K, Kohlschütter A, Muntau A, Posselt H, Steinmann B, Schneppenheim R
HUM MUTAT. 2005;25(6):594.

Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.
Siintola E, Topcu M, Kohlschütter A, Salonen T, Joensuu T, Anttonen A, Lehesjoki A
CLIN GENET. 2005;68(2):167-173.

Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.
Stephan T, Muschol N, Reutter G, Cantz M, Ullrich K, Braulke T
AM J MED GENET A. 2005;137(3):235-240.

Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase
Tiede S, Storch S, Lübke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T
NAT MED. 2005;11(10):1109-12.

Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency.
Torremans A, Marescau B, Possemiers I, Debby V, Isbrandt D, Isbrandt D, Paul P
J NEUROL SCI. 2005;231(1-2):49-55.

[Is a reformation of the medical training worthwhile? The quality of the Hamburg curriculum under the old and the new board certification law]
van den Bussche H, Anders S, Ehrhardt M, Göttsche T, Hüneke B, Kohlschütter A, Kothe R, Kuhnigk O, Neuber K, Rijntjes M, Quellmann C, Harendza S
Z Arztl Fortbild Qualitatssich. 2005;99(7):419-423.

A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.
van Diggelen O, Voznyi Y, Keulemans J, Schoonderwoerd K, Ledvinova J, Mengel E, Zschiesche M, Santer R, Harzer K
J INHERIT METAB DIS. 2005;28(5):733-741.

A novel promoter polymorphism in the gene encoding complement component 5 receptor 1 on chromosome 19q13.3 is not associated with asthma and atopy in three independent populations
Barnes K, Caraballo L, Muñoz M, Zambelli-Weiner A, Ehrlich E, Burki M, Jimenez S, Mathias R, Stockton M, Deindl P, Mendoza L, Hershey G, Nickel R, Wills-Karp M
CLIN EXP ALLERGY. 2004;34(5):736-44.

[Infant botulism and sudden infant death syndrome]
Bartram U, Singer D
KLIN PADIATR. 2004;216(1):26-30.

Unexplained anaemia and failure to thrive as initial symptoms of infantile choriocarcinoma: a review
Blohm M, Göbel U
EUR J PEDIATR. 2004;163(1):1-6.

One hundred thirty-two consecutive pediatric liver transplants without hospital mortality: lessons learned and outlook for the future.
Broering D, Kim J, Mueller T, Fischer L, Ganschow R, Bicak T, Mueller L, Hillert C, Wilms C, Hinrichs B, Helmke K, Pothmann W, Burdelski M, Rogiers X
ANN SURG. 2004;240(6):1002-1012.

Keratin 8 Y54H and G62C mutations are not associated with inflammatory bowel disease
Büning C, Halangk J, Dignass A, Ockenga J, Deindl P, Nickel R, Genschel J, Landt O, Lochs H, Schmidt H, Witt H
DIGEST LIVER DIS. 2004;36(6):388-91.

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene
Coenen M, van den Heuvel L, Ugalde C, Ten Brinke M, Nijtmans L, Trijbels F, Beblo S, Maier E, Muntau A, Smeitink J
ANN NEUROL. 2004;56(4):560-4.

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
Ensenauer R, Vockley J, Willard J, Huey J, Sass J, Edland S, Burton B, Berry S, Santer R, Grünert S, Koch H, Marquardt I, Rinaldo P, Hahn S, Matern D
AM J HUM GENET. 2004;75(6):1136-1142.

C2 blood concentrations of orally administered cyclosporine in pediatric liver graft recipients with a body weight below 10 kg
Ganschow R, Richter A, Grabhorn E, Schulz A, von Hugo A, Mir T, Broering D, Rogiers X, Hinrichs B, Burdelski M
PEDIATR TRANSPLANT. 2004;8(2):185-188.

Low-dose immunosuppression reduces the incidence of post-transplant lymphoproliferative disease in pediatric liver graft recipients.
Ganschow R, Schulz T, Meyer T, Broering D, Burdelski M
J PEDIATR GASTR NUTR. 2004;38(2):198-203.

A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.
Gordon M, Brada N, Remacha A, Badell I, Elisabeth D, Baiget M, Santer R, Quadros E, Rothenberg S, Alpers D
HUM MUTAT. 2004;23(1):85-91.

Short- and long-term results of liver transplantation in infants aged less than 6 months.
Grabhorn E, Schulz A, Helmke K, Hinrichs B, Rogiers X, Broering D, Burdelski M, Ganschow R
TRANSPLANTATION. 2004;78(2):235-241.

Aprataxin mutations are a rare cause of early onset ataxia in Germany.
Habeck M, Zühlke C, Bentele K, Unkelbach S, Kress W, Bürk K, Schwinger E, Hellenbroich Y
J NEUROL. 2004;251(5):591-594.

Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany
Hoffmann G, von Kries R, Klose D, Lindner M, Schulze A, Muntau A, Röschinger W, Liebl B, Mayatepek E, Roscher A
EUR J PEDIATR. 2004;163(2):76-80.

Recurrence of severe steroid dependency in cyclosporin A-treated childhood idiopathic nephrotic syndrome.
Kemper M, Kuwertz-Broeking E, Bulla M, Müller-Wiefel D, Neuhaus T
NEPHROL DIAL TRANSPL. 2004;19(5):1136-1141.

Split liver transplantation: past, present and future.
Kim J, Broering D, Tustas R, Fischer L, Ganschow R, Burdelski M, Rogiers X
PEDIATR TRANSPLANT. 2004;8(6):644-648.

Animal models for glutaryl-CoA dehydrogenase deficiency
Koeller D, Sauer S, Wajner M, de Mello C, Goodman S, Woontner M, Mühlhausen C, Okun J, Kölker S
J INHERIT METAB DIS. 2004;27(6):813-8.

Catheter visualization with resonant markers at MR imaging-guided deployment of endovascular stents in swine.
Kuehne T, Weiss S, Brinkert F, Weil J, Yilmaz S, Schmitt B, Ewert P, Lange P, Gutberlet M
RADIOLOGY. 2004;233(3):774-780.

Associations between specific serum IgE response and 6 variants within the genes IL4, IL13, and IL4RA in German children: the German Multicenter Atopy Study
Liu X, Beaty T, Deindl P, Huang S, Lau S, Sommerfeld C, Fallin M, Kao W, Wahn U, Nickel R
J ALLERGY CLIN IMMUN. 2004;113(3):489-95.

Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome.
Meissner T, Mayatepek E, Kinner M, Santer R
CLIN CHIM ACTA. 2004;341(1-2):23-26.

Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I
Mühlhausen C, Ergün S, Strauss K, Koeller D, Crnic L, Woontner M, Goodman S, Ullrich K, Braulke T
J INHERIT METAB DIS. 2004;27(6):829-34.

Maintenance treatment of glutaryl-CoA dehydrogenase deficiency
Mühlhausen C, Hoffmann G, Strauss K, Kölker S, Okun J, Greenberg C, Naughten E, Ullrich K
J INHERIT METAB DIS. 2004;27(6):885-92.

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
Muschol N, Storch S, Ballhausen D, Beesley C, Westermann J, Gal A, Ullrich K, Hopwood J, Winchester B, Braulke T
HUM MUTAT. 2004;23(6):559-566.

BIOKID: randomized controlled trial comparing bicarbonate and lactate buffer in biocompatible peritoneal dialysis solutions in children [ISRCTN81137991].
Nau B, Schmitt C, Almeida M, Arbeiter K, Ardissino G, Bonzel K, Edefonti A, Fischbach M, Haluany K, Misselwitz J, Kemper M, Rönnholm K, Wygoda S, Schaefer F, Group E
BMC NEPHROL. 2004;5:14.

Dynamic (re)organization of the podocyte actin cytoskeleton in the nephrotic syndrome
Oh J, Reiser J, Mundel P
PEDIATR NEPHROL. 2004;19(2):130-7.

A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.
Peduto A, Spada M, Alluto A, La Dolcetta M, Ponzone A, Santer R
J INHERIT METAB DIS. 2004;27(2):279-280.

Podocyte migration during nephrotic syndrome requires a coordinated interplay between cathepsin L and alpha3 integrin
Reiser J, Oh J, Shirato I, Asanuma K, Hug A, Mundel T, Honey K, Ishidoh K, Kominami E, Kreidberg J, Tomino Y, Mundel P
J BIOL CHEM. 2004;279(33):34827-32.

Induction of B7-1 in podocytes is associated with nephrotic syndrome
Reiser J, von Gersdorff G, Loos M, Oh J, Asanuma K, Giardino L, Rastaldi M, Calvaresi N, Watanabe H, Schwarz K, Faul C, Kretzler M, Davidson A, Sugimoto H, Kalluri R, Sharpe A, Kreidberg J, Mundel P
J CLIN INVEST. 2004;113(10):1390-7.

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
Ruf R, Xu P, Silvius D, Otto E, Beekmann F, Muerb U, Kumar S, Neuhaus T, Kemper M, Raymond R, Brophy P, Berkman J, Gattas M, Hyland V, Ruf E, Schwartz C, Chang E, Smith R, Stratakis C, Weil D, Petit C, Hildebrandt F
P NATL ACAD SCI USA. 2004;101(21):8090-8095.

Health-related quality of life and psychosocial adjustment in steroid-sensitive nephrotic syndrome.
Rüth E, Landolt M, Neuhaus T, Kemper M
J PEDIATR-US. 2004;145(6):778-783.

The boy with massive glucosuria.
Sarkissian A, Santer R, Steinmann B, Amaryan G, Leumann E
NEPHROL DIAL TRANSPL. 2004;19(5):1319-1320.

Long-term outcome of renal glucosuria type 0: the original patient and his natural history.
Scholl-Bürgi S, Santer R, Ehrich J
NEPHROL DIAL TRANSPL. 2004;19(9):2394-2396.

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.
Schulz A, Dhar S, Rylova S, Dbaibo G, Alroy J, Hagel C, Artacho I, Kohlschütter A, Lin S, Boustany R
ANN NEUROL. 2004;56(3):342-350.

Metabolic adaptation to hypoxia: cost and benefit of being small.
Singer D
RESP PHYSIOL NEUROBI. 2004;141(3):215-228.

Latex allergy in children with urological malformation and chronic renal failure.
Spartà G, Kemper M, Gerber A, Goetschel P, Neuhaus T
J UROLOGY. 2004;171(4):1647-1649.

A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.
Stephan T, Cantz M, Raas-Rothschild A, Muschol N, Bürger F, Ullrich K, Braulke T
HUM MUTAT. 2004;24(6):535.

A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting
Storch S, Pohl S, Braulke T
J BIOL CHEM. 2004;279(51):53625-34.

Nephrolithiasis in a child with glucose-galactose malabsorption.
Tasic V, Slaveska N, Blau N, Santer R
PEDIATR NEPHROL. 2004;19(2):244-246.

Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.
Tsiakas K, Steinfeld R, Storch S, Ezaki J, Lukacs Z, Kominami E, Kohlschütter A, Ullrich K, Braulke T
GLYCOBIOLOGY. 2004;14(4):.

In vivo safe catheter visualization and slice tracking using an optically detunable resonant marker.
Weiss S, Kuehne T, Brinkert F, Krombach G, Katoh M, Schaeffter T, Guenther R, Buecker A
MAGN RESON MED. 2004;52(4):860-868.

[Aseptic meningitis after intrathecal infusion of a parenteral nutrition solution: examples of rare malpositions of central venous catheters in preterm neonates]
Wirbelauer J, Singer D, Darge K, Speer C
Z GEBURTSH NEONATOL. 2004;208(2):63-67.

Neutrophil aggregates in a 13-year-old girl: a rare hematological phenomenon.
Claviez A, Horst H, Santer R, Suttorp M
ANN HEMATOL. 2003;82(4):251-253.

Multicenter evaluation of the performance characteristics of the NucliSens HIV-1 QT assay used for quantitation of human immunodeficiency virus type 1 RNA.
Ginocchio C, Kemper M, Stellrecht K, Witt D
J CLIN MICROBIOL. 2003;41(1):164-173.

Intrauterine regression of an adrenal mass.
Girschick G, Singer D, Trusen A, Dietl J, Müller T
ULTRASOUND OBST GYN. 2003;21(3):307-309.

An 8-year old boy with recurrent macroscopic hematuria, weight loss, and kidney failure.
Kemper M, Bergsträsser E, Pawlik H, Gaspert A, Neuhaus T
J PEDIATR-US. 2003;142(3):342-345.

Combined T- and B-cell activation in childhood steroid-sensitive nephrotic syndrome.
Kemper M, Meyer-Jark T, Lilova M, Müller-Wiefel D
CLIN NEPHROL. 2003;60(4):242-247.

Neuropsychologic side-effects of tacrolimus in pediatric renal transplantation.
Kemper M, Spartà G, Laube G, Miozzari M, Neuhaus T
CLIN TRANSPLANT. 2003;17(2):130-134.

Associations between total serum IgE levels and the 6 potentially functional variants within the genes IL4, IL13, and IL4RA in German children: the German Multicenter Atopy Study
Liu X, Beaty T, Deindl P, Huang S, Lau S, Sommerfeld C, Fallin M, Kao W, Wahn U, Nickel R
J ALLERGY CLIN IMMUN. 2003;112(2):382-8.

Regulation of EMAP II by hypoxia
Matschurat S, Knies U, Person V, Fink L, Stoelcker B, Ebenebe C, Behrensdorf H, Schaper J, Clauss M
AM J PATHOL. 2003;162(1):93-103.

Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
Mühlhausen C, Christensen E, Schwartz M, Muschol N, Ullrich K, Lukacs Z
J INHERIT METAB DIS. 2003;26(7):713-714.

Interaction of PEX3 and PEX19 visualized by fluorescence resonance energy transfer (FRET)
Muntau A, Roscher A, Kunau W, Dodt G
ADV EXP MED BIOL. 2003;544:221-4.

The interaction between human PEX3 and PEX19 characterized by fluorescence resonance energy transfer (FRET) analysis
Muntau A, Roscher A, Kunau W, Dodt G
EUR J CELL BIOL. 2003;82(7):333-42.

Severe acute abdominal pain in idiopathic nephrotic syndrome.
Neuhaus T, Kemper M
PEDIATR NEPHROL. 2003;18(3):304.

A replacement of the active-site aspartic acid residue 293 in mouse cathepsin D affects its intracellular stability, processing and transport in HEK-293 cells.
Partanen S, Storch S, Löffler H, Hasilik A, Tyynelä J, Braulke T
BIOCHEM J. 2003;369(1):55-62.

Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency.
Santer R, Fingerhut R, Lässker U, Wightman P, Fitzpatrick D, Olgemöller B, Roscher A
CLIN CHEM. 2003;49(4):660-662.

Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans.
Santer R, Hillebrand G, Steinmann B, Schaub J
GASTROENTEROLOGY. 2003;124(1):34-39.

Molecular analysis of the SGLT2 gene in patients with renal glucosuria.
Santer R, Kinner M, Lassen C, Schneppenheim R, Eggert P, Bald M, Brodehl J, Daschner M, Ehrich J, Kemper M, Salvatore L, Neuhaus T, Skovby F, Swift P, Schaub J, Klaerke D
J AM SOC NEPHROL. 2003;14(11):2873-2882.

Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.
Santer R, Muhle H, Suormala T, Baumgartner E, Duran M, Yang X, Aoki Y, Suzuki Y, Stephani U
MOL GENET METAB. 2003;79(3):160-166.

Hair artefacts in the head and neck region
Scheifele C, Lemke A, Reichart P
DENTOMAXILLOFAC RAD. 2003;32(4):255-7.

von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.
Schneppenheim R, Ulrich B, Oyen F, Angerhaus D, Aumann V, Drewke E, Hassenpflug W, Häberle J, Kentouche K, Kohne E, Kurnik K, Müller-Wiefel D, Obser T, Santer R, Sykora K
BLOOD. 2003;101(5):1845-1850.

Pacemaker channel dysfunction in a patient with sinus node disease
Schulze-Bahr E, Neu A, Friederich P, Kaupp U, Breithardt G, Pongs O, Isbrandt D
J CLIN INVEST. 2003;111(10):1537-45.

Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.
Storch S, Wittenstein B, Islam R, Ullrich K, Sly W, Braulke T
HUM GENET. 2003;112(2):190-194.

Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts
Taanman J, Muddle J, Muntau A
HUM MOL GENET. 2003;12(15):1839-45.

Basiliximab monotherapy following B-cell lymphoma after pediatric liver transplantation and anti-CD20 therapy.
Venzke A, Ganschow R, Grabhorn E, Rogiers X, Burdelski M
PEDIATR TRANSPLANT. 2003;7(5):404-407.

Genetic analysis: a diagnostic tool for primary hyperoxaluria type 1.
von Schnakenburg C, Rumsby G, Hoppe B, Latta K, Kemper M
PEDIATR NEPHROL. 2003;18(5):482-484.

[An approach for safe visualization and localization of catheter during MR-guided intravascular procedures]
Weiss S, Schaeffter T, Brinkert F, Kühne T, Bücker A
Z MED PHYS. 2003;13(3):172-176.

MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.
Wightman P, Santer R, Ribes A, Dougherty F, McGill N, Thorburn D, FitzPatrick D
HUM MUTAT. 2003;22(4):288-300.

High-flavonol tomatoes resulting from the heterologous expression of the maize transcription factor genes LC and C1.
Bovy A, de Vos R, Kemper M, Schijlen E, Maria A, Muir S, Collins G, Robinson S, Verhoeyen M, Hughes S, Santos-Buelga C, van Tunen A
PLANT CELL. 2002;14(10):2509-2526.

Circulating inhibitor of gonadotropin releasing hormone secretion by hypothalamic neurons in uremia
Daschner M, Philippin B, Nguyen T, Wiesner R, Walz C, Oh J, Sandow J, Mehls O, Schaefer F
KIDNEY INT. 2002;62(5):1582-90.

Comparative yield of HCV RNA testing in blood donors screened by 2.0 versus 3.0 antibody assays.
Galel S, Strong D, Tegtmeier G, Holland P, Kuramoto I, Kemper M, Pietrelli L, Gallarda J
TRANSFUSION. 2002;42(11):1507-1513.

Cholelithiasis in pediatric organ transplantation: detection and management.
Ganschow R
PEDIATR TRANSPLANT. 2002;6(2):91-96.

The oxidative metabolism of polymorphonuclear neutrophils in pediatric liver graft recipients.
Ganschow R, Albani J, Rogiers X, Burdelski M
CLIN TRANSPLANT. 2002;16(3):185-190.

Cardiac failure in an infant with Chediak-Higashi syndrome: a hypothesis of the effect of diadenosine polyphosphates.
Ganschow R, Grabhorn E, Lemke J, Lepler R
PEDIAT ALLERG IMM-UK. 2002;13(4):307-310.

Low incidence of posttransplant lymphoproliferative disease in children treated with low-dose immunosuppression after liver transplantation.
Ganschow R, Schulz T, Meyer T, Broering D, Burdelski M
TRANSPL P. 2002;34(5):1961-1962.

Liver transplantation in infants: how much immunosuppression is needed?
Ganschow R, Venzke A, Grabhorn E, Broering D, Rogiers X, Burdelski M
TRANSPL P. 2002;34(5):1963.

Liver transplantation in infants younger than 6 months old.
Grabhorn E, Ganschow R, Helmke K, Rogiers X, Burdelski M
TRANSPL P. 2002;34(5):1964-1965.

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.
Kalatzis V, Cohen-Solal L, Cordier B, Frishberg Y, Kemper M, Nuutinen E, Legrand E, Cochat P, Antignac C
HUM MUTAT. 2002;20(6):439-446.

Serum levels of immunoglobulins and IgG subclasses in steroid sensitive nephrotic syndrome.
Kemper M, Altrogge H, Ganschow R, Müller-Wiefel D
PEDIATR NEPHROL. 2002;17(6):413-417.

The child with initially refractory skin infection after renal transplantation.
Kemper M, Laube G, Blasius M, Neuhaus T
NEPHROL DIAL TRANSPL. 2002;17(5):927-928.

Influence of family structure on course of steroid-sensitive nephrotic syndrome.
Kemper M, Neuhaus T
PEDIATR NEPHROL. 2002;17(11):974.

Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings.
Lässker U, Zschocke J, Blau N, Santer R
J INHERIT METAB DIS. 2002;25(1):65-70.

Escherichia coli O157 fails to induce a long-lasting lipopolysaccharide-specific, measurable humoral immune response in children with hemolytic-uremic syndrome.
Ludwig K, Bitzan M, Bobrowski C, Müller-Wiefel D
J INFECT DIS. 2002;186(4):566-569.

Saliva IgM and IgA are a sensitive indicator of the humoral immune response to Escherichia coli O157 lipopolysaccharide in children with enteropathic hemolytic uremic syndrome.
Ludwig K, Grabhorn E, Bitzan M, Bobrowski C, Kemper M, Sobottka I, Laufs R, Karch H, Müller-Wiefel D
PEDIATR RES. 2002;52(2):307-313.

Shiga toxin-producing Escherichia coli infection and antibodies against Stx2 and Stx1 in household contacts of children with enteropathic hemolytic-uremic syndrome.
Ludwig K, Sarkim V, Bitzan M, Karmali M, Bobrowski C, Ruder H, Laufs R, Sobottka I, Petric M, Karch H, Müller-Wiefel D
J CLIN MICROBIOL. 2002;40(5):1773-1782.

Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation
Maier E, Kammerer S, Muntau A, Wichers M, Braun A, Roscher A
ANN NEUROL. 2002;52(5):683-8.

Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly
Mayerhofer P, Kattenfeld T, Roscher A, Muntau A
BIOCHEM BIOPH RES CO. 2002;291(5):1180-6.

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria
Muntau A, Röschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff C, Roscher A
NEW ENGL J MED. 2002;347(26):2122-32.

Age-related reference values for serum selenium concentrations in infants and children
Muntau A, Streiter M, Kappler M, Röschinger W, Schmid I, Rehnert A, Schramel P, Roscher A
CLIN CHEM. 2002;48(3):555-60.

Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophages.
Muschol N, Matzner U, Stephan T, Gieselmann V, Ullrich K, Braulke T
BIOCHEM J. 2002;368(3):845-853.

Identification of the human ortholog of the t-complex-encoded protein TCTE3 and evaluation as a candidate gene for primary ciliary dyskinesia
Neesen J, Drenckhahn J, Tiede S, Burfeind P, Grzmil M, Konietzko J, Dixkens C, Kreutzberger J, Laccone F, Omran H
CYTOGENET GENOME RES. 2002;98(1):38-44.

Activation of GABA(A) receptors by guanidinoacetate: a novel pathophysiological mechanism
Neu A, Neuhoff H, Trube G, Fehr S, Ullrich K, Roeper J, Isbrandt D
NEUROBIOL DIS. 2002;11(2):298-307.

I(h) channels contribute to the different functional properties of identified dopaminergic subpopulations in the midbrain
Neuhoff H, Neu A, Liss B, Roeper J
J NEUROSCI. 2002;22(4):1290-302.

A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome.
Odièvre M, Lombès A, Dessemme P, Santer R, Brivet M, Chevallier B, Lagardère B, Odièvre M
J INHERIT METAB DIS. 2002;25(5):379-384.

Advanced coronary and carotid arteriopathy in young adults with childhood-onset chronic renal failure
Oh J, Wunsch R, Turzer M, Bahner M, Raggi P, Querfeld U, Mehls O, Schaefer F
CIRCULATION. 2002;106(1):100-5.

PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease
Preuss N, Brosius U, Biermanns M, Muntau A, Conzelmann E, Gartner J
PEDIATR RES. 2002;51(6):706-14.

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.
Santer R, Groth S, Kinner M, Dombrowski A, Berry G, Brodehl J, Leonard J, Moses S, Norgren S, Skovby F, Schneppenheim R, Steinmann B, Schaub J
HUM GENET. 2002;110(1):21-29.

Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport.
Santer R, Steinmann B, Schaub J
CURR MOL MED. 2002;2(2):213-227.

Assessment of cardiac output, intravascular volume status, and extravascular lung water by transpulmonary indicator dilution in critically ill neonates and infants.
Schiffmann H, Erdlenbruch B, Singer D, Singer S, Herting E, Hoeft A, Buhre W
J CARDIOTHOR VASC AN. 2002;16(5):592-597.

Long-term survival after radical operations for cancer treatment-induced sarcomas: how two survivors invite reflection on oncologic treatment concepts.
Schwarz R, Hillebrand G, Peralta E, Chu D, Weiss L
AM J CLIN ONCOL-CANC. 2002;25(3):244-247.

[Universal newborn hearing screening program in Würzburg. Experience with more than 4000 newborns and the influence of non-pathological factors on the test results]
Shehata-Dieler W, Dieler R, Wenzel G, Keim R, Singer D, von Deuster C
LARYNGO RHINO OTOL. 2002;81(3):204-210.

Feeding patterns in breast-fed and formula-fed infants.
Sievers E, Oldigs H, Santer R, Schaub J
ANN NUTR METAB. 2002;46(6):243-248.

[Phylogeny of Mammalian metabolism]
Singer D
ANASTH INTENSIV NOTF. 2002;37(8):441-460.

A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA
Taanman J, Kateeb I, Muntau A, Jaksch M, Cohen N, Mandel H
ANN NEUROL. 2002;52(2):237-9.

Type I IgE receptor, interleukin 4 receptor and interleukin 13 polymorphisms in children with nephrotic syndrome.
Tenbrock K, Schubert A, Stapenhorst L, Kemper M, Gellermann J, Timmermann K, Müller-Wiefel D, Querfeld U, Hoppe B, Michalk D
CLIN SCI. 2002;102(5):507-512.

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.
Valianpour F, Wanders R, Overmars H, Vreken P, Gennip V, Albert H, Baas F, Santer R, Santer R, Becker K, Barth P
J PEDIATR-US. 2002;141(5):729-733.

Asymptomatic intracardiac thrombus in steroid-sensitive nephrotic syndrome.
Weisz W, Kemper M, Weil J, Müller-Wiefel D
PEDIATR NEPHROL. 2002;17(4):287-289.

Depressed oxidative metabolism of polymorphonuclear neutrophils after pediatric liver transplantation.
Albani J, Ganschow R, Rogiers X, Burdelski M
TRANSPL P. 2001;33(1-2):1728-1729.

[Diagnosis of congenital dilatation of the urinary tract. Consensus Group of the Pediatric Nephrology Working Society in cooperation with the Pediatric Urology Working Group of the German Society of Urology and with the Pediatric Urology Working Society in the Germany Society of Pediatric Surgery].
Beetz R, Bökenkamp A, Brandis M, Hoyer P, John U, Kemper M, Kirschstein M, Kuwertz-Bröking E, Misselwitz J, Müller-Wiefel D, Rascher W
UROLOGE. 2001;40(6):495-499.

Bone mineral density in children with primary hyperoxaluria type I.
Behnke B, Kemper M, Kruse H, Müller-Wiefel D
NEPHROL DIAL TRANSPL. 2001;16(11):2236-2239.

Oral mature teratoma containing epididymal tissue in a female neonate.
Beutel K, Partsch C, Jänig U, Nikischin W, Suttorp M
LANCET. 2001;357(9252):283-284.

Disseminated choriocarcinoma in infancy is curable by chemotherapy and delayed tumour resection
Blohm M, Calaminus G, Gnekow A, Heidemann P, Bolkenius M, Weinel P, von Schweinitz D, Ambros P, Schneider D, Harms D, Göbel U
EUR J CANCER. 2001;37(1):72-8.

Laboratory signs of activated coagulation are common in Henoch-Schönlein purpura.
Brendel-Müller K, Hahn A, Schneppenheim R, Santer R
PEDIATR NEPHROL. 2001;16(12):1084-1088.

Is there still a need for living-related liver transplantation in children?
Broering D, Mueller L, Ganschow R, Kim J, Achilles E, Schäfer H, Gundlach M, Fischer L, Sterneck M, Hillert C, Helmke K, Izbicki J, Burdelski M, Rogiers X
ANN SURG. 2001;234(6):712-713.

Th2 cytokine profile in infants predisposes to improved graft acceptance after liver transplantation.
Ganschow R, Broering D, Nolkemper D, Albani J, Kemper M, Rogiers X, Burdelski M
TRANSPLANTATION. 2001;72(5):929-934.

First experience with basiliximab in pediatric liver graft recipients.
Ganschow R, Broering D, Stuerenburg I, Rogiers X, Hellwege H, Burdelski M
PEDIATR TRANSPLANT. 2001;5(5):353-358.

Basiliximab in paediatric liver-transplant recipients.
Ganschow R, Grabhorn E, Burdelski M
LANCET. 2001;357(9253):388.

Liver transplantation in children with Alagille syndrome.
Ganschow R, Grabhorn E, Helmke K, Rogiers X, Burdelski M
TRANSPL P. 2001;33(7-8):3608-3609.

Experience with basiliximab in pediatric liver graft recipients.
Ganschow R, Lyons M, Grabhorn E, Venzke A, Broering D, Rogiers X, Hellwege H, Burdelski M
TRANSPL P. 2001;33(7-8):3606-3607.

B-cell dysfunction and depletion using mycophenolate mofetil in a pediatric combined liver and kidney graft recipient.
Ganschow R, Lyons M, Kemper M, Burdelski M
PEDIATR TRANSPLANT. 2001;5(1):60-63.

Long-chain polyunsaturated fatty acids (LC-PUFA) during early development: contribution of milk LC-PUFA to accretion rates varies among organs.
Hamosh M, Henderson T, Kemper M, Orr N, Gil A, Hamosh P
ADV EXP MED BIOL. 2001;501:397-401.

New LightCycler PCR for rapid and sensitive quantification of parvovirus B19 DNA guides therapeutic decision-making in relapsing infections.
Harder T, Hufnagel M, Zahn K, Beutel K, Schmitt H, Ullmann U, Rautenberg P
J CLIN MICROBIOL. 2001;39(12):4413-4419.

Combined liver-kidney transplantation for primary hyperoxaluria type 1.
Kemper M, Burdelski M, Müller-Wiefel D
NEPHROL DIAL TRANSPL. 2001;16(10):2113-2114.

Renal function in congenital anomalies of the kidney and urinary tract.
Kemper M, Müller-Wiefel D
CURR OPIN UROL. 2001;11(6):571-575.

Antenatal oligohydramnios of renal origin: postnatal therapeutic and prognostic challenges.
Kemper M, Neuhaus T, Timmermann K, Hüneke B, Laube G, Harps E, Mueller-Wiefel D
CLIN NEPHROL. 2001;56(6):9-12.

Transmission of glomerular permeability factor from a mother to her child.
Kemper M, Wolf G, Müller-Wiefel D
NEW ENGL J MED. 2001;344(5):386-387.

Antibody response to Shiga toxins Stx2 and Stx1 in children with enteropathic hemolytic-uremic syndrome.
Ludwig K, Karmali M, Sarkim V, Bobrowski C, Petric M, Karch H, Müller-Wiefel D
J CLIN MICROBIOL. 2001;39(6):2272-2279.

Hyperinsulinism in syndromal disorders.
Meissner T, Rabl W, Mohnike K, Scholl S, Santer R, Mayatepek E
ACTA PAEDIATR. 2001;90(8):856-859.

Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.
Santer R, Kinner M, Passarge M, Superti-Furga A, Mayatepek E, Meissner T, Schneppenheim R, Schaub J
HUM GENET. 2001;108(1):66-71.

Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.
Santer R, Kinner M, Steuerwald U, Kjaergaard S, Skovby F, Simonsen H, Shaiu W, Chen Y, Schneppenheim R, Schaub J
EUR J HUM GENET. 2001;9(5):388-391.

Extrahilar mesenterico-left portal shunt for portal vein thrombosis after liver transplantation.
Stenger A, Broering D, Gundlach M, Bloechle C, Ganschow R, Helmke K, Izbicki J, Burdelski M, Rogiers X
TRANSPL P. 2001;33(1-2):1739-1741.

Multiple C-terminal motifs of the 46-kDa mannose 6-phosphate receptor tail contribute to efficient binding of medium chains of AP-2 and AP-3.
Storch S, Braulke T
J BIOL CHEM. 2001;276(6):4298-4303.

Transferrin binds insulin-like growth factors and affects binding properties of insulin-like growth factor binding protein-3.
Storch S, Kübler B, Höning S, Ackmann M, Zapf J, Blum W, Braulke T
FEBS LETT. 2001;509(3):395-398.

Epidermal naevus and segmental hypermelanosis associated with an intraspinal mass: overlap between different mosaic neuroectodermal syndromes.
Zakrzewski J, Luecke T, Bentele K, Hoeger P
EUR J PEDIATR. 2001;160(10):603-606.

Nosocomial outbreak of vancomycin-resistant Enterococcus faecium at a German university pediatric hospital.
Elsner H, Sobottka I, Feucht H, Harps E, Haun C, Mack D, Ganschow R, Laufs R, Kaulfers P
INT J HYG ENVIR HEAL. 2000;203(2):147-152.

Single-cell mRNA expression of HCN1 correlates with a fast gating phenotype of hyperpolarization-activated cyclic nucleotide-gated ion channels (Ih) in central neurons
Franz O, Liss B, Neu A, Roeper J
EUR J NEUROSCI. 2000;12(8):2685-93.

Interleukin-1 receptor antagonist in ascites indicates acute graft rejection after pediatric liver transplantation.
Ganschow R, Baade B, Hellwege H, Broering D, Rogiers X, Burdelski M
PEDIATR TRANSPLANT. 2000;4(4):289-292.

Intensive care management after pediatric liver transplantation: a single-center experience.
Ganschow R, Nolkemper D, Helmke K, Harps E, Commentz J, Broering D, Pothmann W, Rogiers X, Hellwege H, Burdelski M
PEDIATR TRANSPLANT. 2000;4(4):273-279.

Hereditary fructose intolerance and alpha(1) antitrypsin deficiency
Hillebrand G, Schneppenheim R, Oldigs H, Santer R
ARCH DIS CHILD. 2000;83(1):72-3.

DiGeorge syndrome with discordant phenotype in monozygotic twins.
Hillebrand G, Siebert R, Simeoni E, Santer R
J MED GENET. 2000;37(9):23.

Staphylococcal septicemia in children with atopic dermatitis.
Hoeger P, Ganschow R, Finger G
PEDIATR DERMATOL. 2000;17(2):111-114.

Unfavorable response to cyclophosphamide in steroid-dependent nephrotic syndrome.
Kemper M, Altrogge H, Ludwig K, Timmermann K, Müller-Wiefel D
PEDIATR NEPHROL. 2000;14(8-9):772-775.

The child with haematuria and dysphagia.
Kemper M, Ganschow R, Helmke K, Muller-Wiefel D
NEPHROL DIAL TRANSPL. 2000;15(10):1694-1695.

Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1.
Nolkemper D, Kemper M, Burdelski M, Vaismann I, Rogiers X, Broelsch C, Ganschow R, Müller-Wiefel D
PEDIATR TRANSPLANT. 2000;4(3):177-181.

Selective effect of tumor necrosis factor on transformed versus nontransformed cells: nonselective signal recognition but differential target cell response.
Schulz A, Bauer G
ANTICANCER RES. 2000;20(5):3435-3442.

Synergistic action between tumor necrosis factor-alpha and transforming growth factor type-beta: consequences for natural antitumor mechanisms.
Schulz A, Bauer G
ANTICANCER RES. 2000;20(5):3443-3448.

[Rediscovery of therapeutic hypothermia for newborn infants]
Singer D
Z GEBURTSH NEONATOL. 2000;204(2):41.

[Advantages of water filtered over conventional infrared irradiation in neonatology]
Singer D, Schröder M, Harms K
Z GEBURTSH NEONATOL. 2000;204(3):85-92.

Liver transplantation in children: long-term outcome and quality of life.
Burdelski M, Nolkemper D, Ganschow R, Sturm E, Malago M, Rogiers X, Brölsch C
EUR J PEDIATR. 1999;158(2):34-42.

Treatment of hyperinsulinaemic hypoglycaemia with nifedipine.
Eichmann D, Hufnagel M, Quick P, Santer R
EUR J PEDIATR. 1999;158(3):204-206.

Influence of Th1 and Th2 cytokine patterns on graft acceptance in pediatric liver transplantation.
Ganschow R, Nolkemper D, Hoffmann T, Gieseking J, Rogiers X, Broelsch C, Burdelski M
TRANSPL P. 1999;31(1-2):465-466.

Tubulointerstitial nephritis and uveitis in association with Epstein-Barr virus infection.
Grefer J, Santer R, Ankermann T, Faul S, Nölle B, Eggert P
PEDIATR NEPHROL. 1999;13(4):336-339.

Plasma calcium oxalate supersaturation in children with primary hyperoxaluria and end-stage renal failure.
Hoppe B, Kemper M, Bökenkamp A, Portale A, Cohn R, Langman C
KIDNEY INT. 1999;56(1):268-274.

Effect of DDAVP on nocturnal enuresis in a patient with nephrogenic diabetes insipidus.
Jonat S, Santer R, Schneppenheim R, Obser T, Eggert P
ARCH DIS CHILD. 1999;81(1):57-59.

Some hypothalamic hamartomas contain transforming growth factor alpha, a puberty-inducing growth factor, but not luteinizing hormone-releasing hormone neurons.
Jung H, Carmel P, Schwartz M, Witkin J, Bentele K, Westphal M, Piatt J, Costa M, Cornea A, Ma Y, Ojeda S
J CLIN ENDOCR METAB. 1999;84(12):4695-4701.

Iron homeostasis in relapsing steroid-sensitive nephrotic syndrome of childhood.
Kemper M, Bello A, Altrogge H, Timmermann K, Ludwig K, Müller-Wiefel D
CLIN NEPHROL. 1999;52(1):25-29.

Inositol-1,4,5-trisphosphate increase by diadenosine tetraphosphate in preparations from failing human myocardium
Knapp J, Bokník P, Linck B, Läer S, Müller F, Neumann J, Vahlensieck U, Schlüter H, Zidek W, Schmitz W
N-S ARCH PHARMACOL. 1999;360(3):354-7.

The weaver mouse gain-of-function phenotype of dopaminergic midbrain neurons is determined by coactivation of wvGirk2 and K-ATP channels
Liss B, Neu A, Roeper J
J NEUROSCI. 1999;19(20):8839-48.

Retroviral vectors pseudotyped with lymphocytic choriomeningitis virus.
Miletic H, Bruns M, Tsiakas K, Vogt B, Rezai R, Baum C, Kühlke K, Cosset F, Ostertag W, Lother H, von Laer D
J VIROL. 1999;73(7):6114-6116.

Inotropic effects of diadenosine tetraphosphate in isolated canine cardiac preparations
Neumann J, Meissner A, Bokník P, Gombosová I, Knapp J, Lüss H, Müller F, Schlüter H, Zidek W, Rolf N, Van Aken H, Vahlensieck U, Schmitz W
J CARDIOVASC PHARM. 1999;33(1):151-6.

Celiac disease and selective IgA deficiency in a girl with atypical Turner syndrome.
Schewior S, Brand M, Santer R
J PEDIATR GASTR NUTR. 1999;28(3):353-354.

Determination of airway humidification in high-frequency oscillatory ventilation using an artificial neonatal lung model. Comparison of a heated humidifier and a heat and moisture exchanger.
Schiffmann H, Singer S, Singer D, von Richthofen E, Rathgeber J, Züchner K
INTENS CARE MED. 1999;25(9):997-1002.

Neonatal tolerance to hypoxia: a comparative-physiological approach.
Singer D
COMP BIOCHEM PHYS A. 1999;123(3):221-234.

Inotropic effects of diadenosine tetraphosphate (AP4A) in human and animal cardiac preparations
Vahlensieck U, Bokník P, Gombosová I, Huke S, Knapp J, Linck B, Lüss H, Müller F, Neumann J, Deng M, Scheld H, Jankowski H, Schlüter H, Zidek W, Zimmermann N, Schmitz W
J PHARMACOL EXP THER. 1999;288(2):805-13.

Hepatic thrombopoietin mRNA levels in acute and chronic liver failure of childhood.
Wolber E, Ganschow R, Burdelski M, Jelkmann W
HEPATOLOGY. 1999;29(6):1739-1742.

Bone alkaline phosphatase in children with chronic renal failure.
Behnke B, Kemper M, Kruse H, Müller-Wiefel D
NEPHROL DIAL TRANSPL. 1998;13(3):662-667.

Alpha 1-fetoprotein (AFP) reference values in infants up to 2 years of age
Blohm M, Vesterling-Hörner D, Calaminus G, Göbel U
PEDIATR HEMAT ONCOL. 1998;15(2):135-42.

[Thermoregulation and anesthesia]
Bräuer A, Perl T, Singer D
ANASTH INTENSIV NOTF. 1998;33(6):383-386.

Cloning and functional expression of rat ether-à-go-go-like K+ channel genes
Engeland B, Neu A, Ludwig J, Roeper J, Pongs O
J PHYSIOL-LONDON. 1998;513 ( Pt 3):647-54.

Teratomas in infancy and childhood
Göbel U, Calaminus G, Engert J, Kaatsch P, Gadner H, Bökkerink J, Hass R, Waag K, Blohm M, Dippert S, Teske C, Harms D
Med Pediatr Oncol. 1998;31(1):8-15.

Plasma calcium-oxalate saturation in children with renal insufficiency and in children with primary hyperoxaluria.
Hoppe B, Kemper M, Bökenkamp A, Langman C
KIDNEY INT. 1998;54(3):921-925.

Simultaneous determination of oxalate, citrate and sulfate in children's plasma with ion chromatography.
Hoppe B, Kemper M, Hvizd M, Sailer D, Langman C
KIDNEY INT. 1998;53(5):1348-1352.

Further evidence for a dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy: a family with documented hyperinsulinemia in two generations.
Hufnagel M, Eichmann D, Stieh J, Santer R
J CLIN ENDOCR METAB. 1998;83(6):2215-2216.

[The treatment with levamisole of frequently recurring steroid-sensitive idiopathic nephrotic syndrome in children]
Kemper M, Amon O, Timmermann K, Altrogge H, Müller-Wiefel D
DEUT MED WOCHENSCHR. 1998;123(9):239-243.

Preemptive liver transplantation in primary hyperoxaluria type 1: timing and preliminary results.
Kemper M, Nolkemper D, Rogiers X, Timmermann K, Sturm E, Malago M, Broelsch C, Burdelski M, Müller-Wiefel D
J NEPHROL. 1998;11(1):46-48.

Differential regulation of the clusterin gene by Ha-ras and c-myc oncogenes and during apoptosis.
Klock G, Storch S, Rickert J, Gutacker C, Koch-Brandt C
J CELL PHYSIOL. 1998;177(4):593-605.

Treatment and long-term outcome of pineal nongerminomatous germ cell tumors.
Knappe U, Bentele K, Horstmann M, Herrmann H
PEDIATR NEUROSURG. 1998;28(5):241-245.

Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter. SSIEM Award. Society for the Study of Inborn Errors of Metabolism
Santer R, Schneppenheim R, Dombrowski A, Götze H, Steinmann B, Schaub J
J INHERIT METAB DIS. 1998;21(3):191-194.

Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature.
Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B
EUR J PEDIATR. 1998;157(10):783-797.

Outbreak of systemic aspergillosis in a neonatal intensive care unit.
Singer S, Singer D, Rüchel R, Mergeryan H, Schmidt U, Harms K
MYCOSES. 1998;41(5-6):223-227.

Reversible brain MRI changes in acyclovir neurotoxicity
Blohm M, Nürnberger W, Aulich A, Engelbrecht V, Burdach S
BONE MARROW TRANSPL. 1997;19(10):1049-51.

Extracranial non-testicular teratoma in childhood and adolescence introduction of a risk score for stratification of therapy
Göbel U, Calaminus G, Blohm M, Booss D, Felberbauer F, Hofmann U, Holschneider A, Willnow U, Harms D
KLIN PADIATR. 1997;209(4):228-34.

Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.
Heidet L, Cohen-Solal L, Boye E, Thorner P, Kemper M, David A, Larget Piet L, Zhou J, Flinter F, Zhang X, Gubler M, Antignac C
Cytogenet Cell Genet. 1997;78(3-4):240-246.

Disseminated islands of gastric mucosa in jejunum and ileum detected by technetium-99m-pertechnetate scintigraphy.
Heinrichs V, Kemper M, Burdelski M, Kluth D, Mueller-Wiefel D, Schaefer H, Luebeck M
J NUCL MED. 1997;38(5):818-820.

[Bilharziasis as the etiology in hematuria and proteinuria in childhood].
Kemper M, Altrogge H, Amon O, Müller-Wiefel D
KLIN PADIATR. 1997;209(6):373-376.

Primary hyperoxaluria type 2.
Kemper M, Conrad S, Müller-Wiefel D
EUR J PEDIATR. 1997;156(7):509-512.

IgG2 deficiency in uremic children is not restricted to peritoneal dialysis treatment.
Kemper M, Meyer-Jark T, Müller-Wiefel D
PEDIATR NEPHROL. 1997;11(6):684-686.

Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia.
Müller D, Santer R, Krawinkel M, Christiansen B, Schaub J
J INHERIT METAB DIS. 1997;20(4):607-608.

Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.
Santer R, Schneppenheim R, Dombrowski A, Götze H, Steinmann B, Schaub J
NAT GENET. 1997;17(3):324-326.

Airway humidification in mechanically ventilated neonates and infants: a comparative study of a heat and moisture exchanger vs. a heated humidifier using a new fast-response capacitive humidity sensor.
Schiffmann H, Rathgeber J, Singer D, Harms K, Bolli A, Züchner K
CRIT CARE MED. 1997;25(10):1755-1760.

A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration.
Tanaka K, Gregersen N, Ribes A, Kim J, Kølvraa S, Winter V, Eiberg H, Martinez G, Deufel T, Leifert B, Santer R, François B, Pronicka E, László A, Kmoch S, Kremensky I, Kalaydjicva L, Ozalp I, Ito M
PEDIATR RES. 1997;41(2):201-209.

Treatment results in children and adolescents with loco-regional recurrences of abdominal germ cell tumors (GCTs): a pilot-study with PEI chemotherapy and regional deep hyperthermia (RHT) in comparison to a matched cohort
Wessalowski R, Blohm M, Calaminus G, Engert J, Harms D, Krause I, Kruck H, Grüttner H, Pape H, Göbel U
KLIN PADIATR. 1997;209(4):250-6.

High energy phosphates and direct calorimetry as predictive parameters for metabolic recovery of the rat liver following ischemia.
Bach F, Singer D, Schmiedl A, Bauer M, Larsen R
ACTA ANAESTH SCAND. 1996;40(8 Pt 1):940-947.

Microcalorimetric measurements carried out on isolated tumorous and nontumorous tissue samples from organs in the urogenital tract in comparison to histological and impulse-cytophotometric investigations.
Kallerhoff M, Karnebogen M, Singer D, Dettenbach A, Gralher U, Ringert R
UROL RES. 1996;24(2):83-91.

Effective treatment of acute hyperkalaemia in childhood by short-term infusion of salbutamol.
Kemper M, Harps E, Hellwege H, Müller-Wiefel D
EUR J PEDIATR. 1996;155(6):495-497.

Hyperkalemia: therapeutic options in acute and chronic renal failure.
Kemper M, Harps E, Müller-Wiefel D
CLIN NEPHROL. 1996;46(1):67-69.

Nephrocalcinosis in a patient with primary hyperoxaluria type 2.
Kemper M, Müller-Wiefel D
PEDIATR NEPHROL. 1996;10(4):442-444.

Transplantation procedures in primary hyperoxaluria type 1.
Latta A, Müller-Wiefel D, Sturm E, Kemper M, Burdelski M, Broelsch C
CLIN NEPHROL. 1996;46(1):21-23.

Williams-Beuren syndrome and celiac disease.
Santer R, Pankau R, Schaub J, Bürgin-Wolff A
J PEDIATR GASTR NUTR. 1996;23(3):339-340.

Cerebrospinal fluid concentrations of leukotriene B4 in bacterial meningitis.
Santer R, Sievers E, Schaub J
ACTA PAEDIATR. 1996;85(8):902-905.

Negative chronotropic and inotropic effects exerted by diadenosine hexaphosphate (AP6A) via A1-adenosine receptors
Vahlensieck U, Bokník P, Knapp J, Linck B, Müller F, Neumann J, Herzig S, Schlüter H, Zidek W, Deng M, Scheld H, Schmitz W
BRIT J PHARMACOL. 1996;119(5):835-44.

A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.
Wiebusch H, Funke H, Santer R, Richter W, Assmann G
HUM MUTAT. 1996;8(4):392.

Traumatische Luxationen der kranialen Halswirbelsäule im Kindesalter: Klinische Beschreibung von zwei Fällen
Dallek M, Meenen N, Jungbluth K, Bentele K, Grzyska U
Unfallchirurgie. 1995;21(1):40-44.

An intrathoracic lipoma impairing left ventricular function
Jack A, Blohm M, Lye M
Br Heart J. 1995;74(1):95.

[First aid and resuscitation of newborn infants--techniques, indications and risks]
Ritzerfeld S, Singer D, Speer C
Z GEBURTSH NEONATOL. 1995;199(5):199-202.

Decreased activity of respiratory-chain enzymes in glutaric aciduria type II.
Santer R, Claass A, Krawinkel M, Schaub J, Ruitenbeek W
J INHERIT METAB DIS. 1995;18(1):75-76.

The prevalence of the G985 allele of medium-chain acyl-CoA dehydrogenase deficiency among sudden infant death victims and healthy newborns in northern Germany.
Santer R, Gregersen N, Tanaka K, Hinck-Kneip C, Krawinkel M, Schaub J
EUR J PEDIATR. 1995;154(6):497.

Discordance for hyperinsulinemic hypoglycemia in monozygotic twins.
Santer R, Hoffmann H, Suttorp M, Simeoni E, Schaub J
J PEDIATR-US. 1995;126(6):1017.

Submental and diaphragmatic muscle activity during and at resolution of mixed and obstructive apneas and cardiorespiratory arousal in preterm infants.
Wulbrand H, Von Zezschwitz G, Bentele K
PEDIATR RES. 1995;38(3):298-305.

Increased need of erythropoietin during peritonitis in children on continuous peritoneal dialysis.
Amon O, Altrogge H, Kemper M, Strehlau J, Müller-Wiefel D
Adv Perit Dial. 1994;10:318-320.

Population screening for medium-chain acyl-CoA dehydrogenase deficiency: analysis of medium-chain fatty acids and acylglycines in blood spots.
Bennett M, Ragni M, Ostfeld R, Santer R, Schmidt-Sommerfeld E
ANN CLIN BIOCHEM. 1994;31(1):72-77.

Serum levels of sCD23 and sCD25 in children with asthma and in healthy controls.
Hoeger P, Niggemann B, Ganschow R, Dammann C, Haeuser G
ALLERGY. 1994;49(4):217-221.

Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease.
Krawinkel M, Oldigs H, Santer R, Lehnert W, Wendel U, Schaub J
J INHERIT METAB DIS. 1994;17(5):636-637.

Ursodesoxycholic acid: effect on xanthomas in Alagille-Watson syndrome.
Krawinkel M, Santer R, Oldigs H
J PEDIATR GASTR NUTR. 1994;19(4):476-477.

Hypothalamic hamartomas: with special reference to gelastic epilepsy and surgery.
Valdueza J, Cristante L, Dammann O, Bentele K, Vortmeyer A, Saeger W, Padberg B, Freitag J, Herrmann H
NEUROSURGERY. 1994;34(6):949-958.

[Williams-Beuren syndrome in combination with celiac disease]
Pankau R, Partsch C, Gosch A, Santer R
MONATSSCHR KINDERH. 1993;141(7):577-580.

Urinary excretion of epidermal growth factor and transforming growth factor-alpha in breast-fed and formula-fed infants.
Santer R, Borlinghaus P, Sievers E, Segura E, Lamerz R
ACTA PAEDIATR. 1993;82(12):1024-1028.

Isolated defect of peroxisomal beta-oxidation in a 16-year-old patient.
Santer R, Claviez A, Oldigs H, Schaub J, Schutgens R, Wanders R
EUR J PEDIATR. 1993;152(4):339-342.

Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method.
Schmidt-Sommerfeld E, Penn D, Duran M, Bennett M, Santer R, Stanley C
J PEDIATR-US. 1993;122(5 Pt 1):708-714.

Preferential location of N-methyl-D-aspartate (NMDA) receptors on postsynaptic membranes and on non-noradrenergic nerve terminals of the rat brain cortex
Fink K, Blohm M, Molderings G, Bönisch H, Göthert M
N-S ARCH PHARMACOL. 1992;345(6):633-8.

Detection and quantitation of acylcarnitines in plasma and blood spots from patients with inborn errors of fatty acid oxidation.
Schmidt-Sommerfeld E, Penn D, Duran M, Rinaldo P, Bennett M, Santer R, Stanley C
Prog Clin Biol Res. 1992;375:355-362.

[Gelastic epilepsy and precocious puberty in hamartoma of the hypothalamus].
Dammann O, Commentz J, Valdueza J, Christante L, Bentele K
KLIN PADIATR. 1991;203(6):439-447.

Kinetics of the multi-step catalytic degradation of a polymer to its constituent subunits.
Leung Y, Wong L, Santer R, Alliet P, Lee P
Comput Biomed Res. 1991;24(3):209-221.

[Brain abnormality within the scope of a VACTERL association]
Nikischin W, Krolikowski I, Santer R
MONATSSCHR KINDERH. 1991;139(6):360-362.

Celiac disease in Down's syndrome.
Santer R, Sievers E, Oldigs H
J PEDIATR GASTR NUTR. 1991;13(1):121.

Computed tomography in superior mesenteric artery syndrome.
Santer R, Young C, Rossi T, Riddlesberger M
PEDIATR RADIOL. 1991;21(2):154-155.

Sudden infant death syndrome in Hamburg. An epidemiological analysis of 150 cases.
Veelken N, Ziegelitz J, Knispel J, Bentele K
Acta Paediatr Scand. 1991;80(1):86-92.

Effect of thyroxine on the maturation of cholecystokinin (CCK) receptors in pancreatic acini of neonatal rats.
Leung Y, Srimaruta N, Santer R, Lee P, Lebenthal E
PANCREAS. 1990;5(2):210-215.

[Cystic fibrosis and celiac disease. Report of two cases]
Santer R, Harms H
MONATSSCHR KINDERH. 1990;138(9):623-626.

The role of carbohydrate moieties of cholecystokinin receptors in cholecystokinin octapeptide binding: alteration of binding data by specific lectins.
Santer R, Leung Y, Alliet P, Lebenthal E, Lee P
BBA-BIOMEMBRANES. 1990;1051(1):78-83.

Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome.
Santer R, Schmidt-Sommerfeld E, Leung Y, Fischer J, Lebenthal E
EUR J PEDIATR. 1990;150(2):111-114.

Response of exocrine pancreas to corticosterone and aldosterone after adrenalectomy.
Alliet P, Lu R, Madrazo de La Garza J, Santer R, Lebenthal E, Lee P
J STEROID BIOCHEM. 1989;33(6):1097-1102.

[Acute apparently life threatening events in 62 infants: anamnestic and clinical data].
Bentele K, Albani M
KLIN PADIATR. 1988;200(1):57-63.

Are there tests predictive for prolonged apnoea and SIDS? A review of epidemiological and functional studies.
Bentele K, Albani M
Acta Paediatr Scand Suppl. 1988;342:1-21.

Transcutaneous blood gases and sleep apnea profile in healthy preterm infants during early infancy.
Bentele K, Ancker U, Albani M
ADV EXP MED BIOL. 1987;220:89-94.

[Rectum and bladder duplication with malformations of the VACTERL association]
Santer R, Schröder H
KLIN PADIATR. 1987;199(2):119-121.

Rektum- und Blasenduplikatur mit Fehlbildungen der VACTERL-Assoziation
Santer R, Schröder H
KLIN PADIATR. 1987;199(2):119-21.

[Home monitoring of apnea in children at increased risk for sudden infant death (SIDS)].
Bentele K, Albani M, Schulte F
MONATSSCHR KINDERH. 1986;134(1):5-9.

Infant sleep apnea profile: preterm vs. term infants.
Albani M, Bentele K, Budde C, Schulte F
EUR J PEDIATR. 1985;143(4):261-268.

[Sudden infant death].
Bentele K
DEUT MED WOCHENSCHR. 1985;110(25):1013-1014.

Sleep apnoea profile in preterm infants recovering from respiratory distress syndrome.
Bentele K, Albani M, Budde C, Schulte F
ARCH DIS CHILD. 1985;60(6):547-554.

[Subacute citrullinemia--diagnosis and course up to 4th year of life].
Clemens P, Hellwege H, Bentele K, Heddrich M
KLIN PADIATR. 1984;196(1):55-57.

[Nephrocalcinosis following candida-septicemia and heparin-induced osteoporosis in an infant (author's transl)].
Hausdorf G, Bentele K, Hellwege H
MONATSSCHR KINDERH. 1982;130(3):168-170.

Neuronal control of neonatal respiration - sleep apnea and the sudden infant death syndrome.
Schulte F, Albani M, Schnizer H, Bentele K
NEUROPEDIATRICS. 1982;13:3-14.

CCT in different epilepsies with grand mal and focal seizures in 309 children: relation to clinical and electroencephalographic data.
Lagenstein I, Sternowsky H, Rothe M, Bentele K, Kühne G
NEUROPEDIATRICS. 1980;11(4):323-338.

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