Turgay Coşkun

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

Stefan Kölker, Sven F. Garbade, Cheryl R. Greenberg et al. · Pediatric Research · 2006 · 271 citations · Full text

Medicine, Child Health, Pediatrics +3

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Rikke Katrine Jentoft Olsen, Eliška Koňaříková, Teresa Anna Giancaspero et al. · The American Journal of Human Genetics · 2016 · 149 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Sylvia Stöckler‐Ipsiroglu, Clara van Karnebeek, Nicola Longo et al. · Molecular Genetics and Metabolism · 2013 · 140 citations · Full text

Medicine, Neurology, Pharmacotherapy +16

l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

Meral Topçu, Florence Jobard, Sophie Halliez et al. · Human Molecular Genetics · 2004 · 133 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

An update on serine deficiency disorders

Saskia N. van der Crabben, N. M. Verhoeven‐Duif, Eva H. Brilstra et al. · Journal of Inherited Metabolic Disease · 2013 · 124 citations · Full text

Life Sciences, Pathobiology, Human Genetics +8