John H. Walter

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 · 266 citations · Full text

Nutrition, Metabolic Disorder, Pediatric Hematology +8

Vascular Outcome in Patients With Homocystinuria due to Cystathionine β-Synthase Deficiency Treated Chronically

Sufin Yap, Godfried H.J. Boers, Bridget Wilcken et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2001 · 252 citations · Full text

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Stefan Kölker, Ángeles García Cazorla, Vassili Valayannopoulos et al. · Journal of Inherited Metabolic Disease · 2015 · 242 citations · Full text

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Stefan Kölker, Vassili Valayannopoulos, Alberto Burlina et al. · Journal of Inherited Metabolic Disease · 2015 · 229 citations · Full text

Glycogen storage disease type IX: High variability in clinical phenotype

Nicholas Beauchamp, Ann Dalton, Uma Ramaswami et al. · Molecular Genetics and Metabolism · 2007 · 123 citations

Genome-wide Association Study, Medicine, Genetics +13