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Stefan Kölker

Stefan Kölker

Ruprecht Karls Universität Heidelberg - Heidelberg / Germany
Medical and Health Sciences / Pediatric Neurology
AD Scientific Index ID: 1764157
Heidelberg University
person_outline Stefan Kölker's MOST POPULAR ARTICLES
1-) Diagnosis and management of glutaric aciduria type I–revised recommendations Journal of inherited metabolic disease 34 (3), 677-694, 2011
2-) The incidence of urea cycle disorders Molecular genetics and metabolism 110 (1-2), 179-180, 2013
3-) Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency Pediatric research 59 (6), 840-847, 2006
4-) Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy Nature genetics 45 (1), 83-87, 2013
5-) The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2015