Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria
- 1 February 2005
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 76 (2) , 358-360
- https://doi.org/10.1086/427890
Abstract
No abstract availableKeywords
This publication has 6 references indexed in Scilit:
- A gene encoding a putative FAD-dependent l -2-hydroxyglutarate dehydrogenase is mutated in l -2-hydroxyglutaric aciduriaProceedings of the National Academy of Sciences, 2004
- Identification of a dehydrogenase acting on D-2-hydroxyglutarateBiochemical Journal, 2004
- Disease-related Metabolites in Culture Medium of Fibroblasts from Patients with d-2-Hydroxyglutaric Aciduria, l-2-Hydroxyglutaric Aciduria, and Combined d/l-2-Hydroxyglutaric AciduriaClinical Chemistry, 2003
- D-2-Hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?Annals of Neurology, 1999
- d‐2‐Hydroxyglutaric aciduria in a newborn with neurological abnormalities: A new neurometabolic disorder?Journal of Inherited Metabolic Disease, 1993
- D‐2‐hydroxyglutaric aciduria: Case report and biochemical studiesJournal of Inherited Metabolic Disease, 1980