Stefan Kölker

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Sven F. GarbadeStatistical Coordinator at Division for Neuropediatrics and Metabolic MedicineDirección de correo verificada de med.uni-heidelberg.de
Johannes ZschockeDirección de correo verificada de i-med.ac.at
Matthias R. BaumgartnerUniversity Children's Hospital ZürichDirección de correo verificada de kispi.uzh.ch
Markus RiesUniversity of HeidelbergDirección de correo verificada de alumni.duke.edu
Àngels García-Cazorla (ORCID: 0000-...Neuropediatra, Investigadora en Neurociencias Pediátricas, Hospital Sant Joan de Déu, BarcelonaDirección de correo verificada de sjd.es
Johannes HäberleUniversity Children's Hospital Zurich, Zurich, SwitzerlandDirección de correo verificada de kispi.uzh.ch
Prokisch HInstitute of Human Genetics TU-MunichDirección de correo verificada de helmholtz-munich.de
Heiko BrennenstuhlPracticing Physician, Centre for Children and Adolescents, University Hospital HeidelbergDirección de correo verificada de med.uni-heidelberg.de
Ivo BarićProfesor medicine, Medicinski fakultet, Sveučilište u ZagrebuDirección de correo verificada de kbc-zagreb.hr
Darius Ebrahimi-FakhariHarvard Medical School, Boston Children's HospitalDirección de correo verificada de childrens.harvard.edu
Thomas LückeProfessor für PädiatrieDirección de correo verificada de rub.de
Marshall SummarChildren's National HospitalDirección de correo verificada de cnmc.org
Prof. dr. Jan A.M. SmeitinkProfessor in Mitochondrial MedicineDirección de correo verificada de radboudumc.nl
Ute SpiekerkoetterProfessor of Pediatrics, Medical Center - University of Freiburg, GermanyDirección de correo verificada de uniklinik-freiburg.de
Patrick FornyUniversity Children's Hospital ZurichDirección de correo verificada de kispi.uzh.ch
Manuel SchiffDirección de correo verificada de aphp.fr
Friedrich TrefzSenior Pediatric Consulatant, Arzt für Kinder und Jugendmedizin, Pädiatrische Diabetologie undDirección de correo verificada de med.uni-heidelberg.de
Georg KoehrCentral Institute of Mental HealthDirección de correo verificada de zi-mannheim.de
Richard RodenburgClinical Laboratory GeneticistDirección de correo verificada de radboudumc.nl
Sean FroeseUniversity Children's Hospital, ZurichDirección de correo verificada de kispi.uzh.ch

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Stefan Kölker

Heidelberg University Hospital

Dirección de correo verificada de med.uni-heidelberg.de

Metabolic Medicine Child Neurology


Título Ordenar por citas Ordenar por año Ordenar por título	Citado por Citado por	Año
Diagnosis and management of glutaric aciduria type I–revised recommendations S Kölker, E Christensen, JV Leonard, CR Greenberg, A Boneh, ... Journal of inherited metabolic disease 34, 677-694, 2011	379	2011
The incidence of urea cycle disorders ML Summar, S Koelker, D Freedenberg, C Le Mons, J Haberle, HS Lee, ... Molecular genetics and metabolism 110 (1-2), 179-180, 2013	313	2013
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency S Kölker, SF Garbade, CR Greenberg, JV Leonard, JM Saudubray, ... Pediatric research 59 (6), 840-847, 2006	302	2006
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy T Cullup, AL Kho, C Dionisi-Vici, B Brandmeier, F Smith, Z Urry, ... Nature genetics 45 (1), 83-87, 2013	276	2013
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut−, cblA, cblB) F Hörster, MR Baumgartner, C Viardot, T Suormala, P Burgard, B Fowler, ... Pediatric research 62 (2), 225-230, 2007	267	2007
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation S Kölker, AG Cazorla, V Valayannopoulos, AM Lund, AB Burlina, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2015	258	2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype S Kölker, V Valayannopoulos, AB Burlina, J Sykut-Cegielska, FA Wijburg, ... Journal of inherited metabolic disease 38, 1059-1074, 2015	245	2015
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision N Boy, C Mühlhausen, EM Maier, J Heringer, B Assmann, P Burgard, ... Journal of inherited metabolic disease 40, 75-101, 2017	213	2017
Use of guidelines improves the neurological outcome in glutaric aciduria type I J Heringer, SPN Boy, R Ensenauer, B Assmann, J Zschocke, I Harting, ... Annals of neurology 68 (5), 743-752, 2010	201	2010
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity JG Okun, F Hörster, LM Farkas, P Feyh, A Hinz, S Sauer, GF Hoffmann, ... Journal of Biological Chemistry 277 (17), 14674-14680, 2002	194	2002
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins MA Schwab, SW Sauer, JG Okun, LGJ Nijtmans, RJT Rodenburg, ... Biochemical Journal 398 (1), 107-112, 2006	190	2006
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I I Harting, E Neumaier-Probst, A Seitz, EM Maier, B Assmann, I Baric, ... Brain 132 (7), 1764-1782, 2009	184	2009
Neonatal screening for glutaryl‐CoA dehydrogenase deficiency M Lindner, S Kölker, A Schulze, E Christensen, CR Greenberg, ... Journal of inherited metabolic disease 27 (6), 851-859, 2004	182	2004
Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I) S Kölker, E Christensen, JV Leonard, CR Greenberg, AB Burlina, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2007	177	2007
NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d‐2‐hydroxyglutaric aciduria S Kölker, V Pawlak, B Ahlemeyer, JG Okun, F Hörster, E Mayatepek, ... European Journal of Neuroscience 16 (1), 21-28, 2002	172	2002
Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort CBR Funk, AN Prasad, P Frosk, S Sauer, S Kölker, CR Greenberg, ... Brain 128 (4), 711-722, 2005	170	2005
Intracerebral accumulation of glutaric and 3‐hydroxyglutaric acids secondary to limited flux across the blood–brain barrier constitute a biochemical risk factor for … SW Sauer, JG Okun, G Fricker, A Mahringer, I Müller, LR Crnic, ... Journal of neurochemistry 97 (3), 899-910, 2006	165	2006
An international classification of inherited metabolic disorders (ICIMD) CR Ferreira, S Rahman, M Keller, J Zschocke, ICIMD Advisory Group, ... Journal of inherited metabolic disease 44 (1), 164-177, 2021	161	2021
Iron regulatory proteins secure mitochondrial iron sufficiency and function B Galy, D Ferring-Appel, SW Sauer, S Kaden, S Lyoumi, H Puy, S Kölker, ... Cell metabolism 12 (2), 194-201, 2010	156	2010
Impaired mitochondrial dynamics and mitophagy in neuronal models of tuberous sclerosis complex D Ebrahimi-Fakhari, A Saffari, L Wahlster, A Di Nardo, D Turner, TL Lewis, ... Cell reports 17 (4), 1053-1070, 2016	151	2016

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