Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation

Recommendations for a nomenclature system for human gene mutations

Stylianos E. Antonarakis · Human Mutation · 1998 · 939 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Glutaric aciduria; A “new” disorder of amino acid metabolism

Stephen I. Goodman, Sanford P. Markey, Paul G. Moe et al. · Biochemical Medicine · 1975 · 337 citations

Life Sciences, Biochemistry, Molecular Medicine +12

Type I glutaric aciduria, part 1: Natural history of 77 patients

Kevin A. Strauss, Erik G. Puffenberger, D. Holmes Morton · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2003 · 322 citations

Medicine, Neurology, Pediatrics +13

A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

Aleix Navarro‐Sastre, Frederic Tort, Oliver Stehling et al. · The American Journal of Human Genetics · 2011 · 283 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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