The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentationStefan Kölker, Nicholas J. Thompson, Vassili Valayannopoulos et al.|Journal of Inherited Metabolic Disease|2015Cited by 248
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotypeStefan Kölker, Étienne Sokal, Vassili Valayannopoulos et al.|Journal of Inherited Metabolic Disease|2015Cited by 236
Use of guidelines improves the neurological outcome in glutaric aciduria type IJana Herınger, Stefan Kölker, S. P. Nikolas Boy et al.|Annals of Neurology|2010Cited by 169
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 deficiencySven W. Sauer, Stefan Kölker, Jürgen G. Okun et al.|Journal of Neurochemistry|2006Cited by 164
Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in GermanyStefan Kölker, Georg F. Hoffmann, Sven F. Garbade et al.|Pediatric Research|2007Cited by 111