title: A novel mutation as a cause of L-2-hydroxyglutaric aciduria.
authors.forename: Ged
authors.initials: G
authors.lastname: O'Connor
authors.forename: M
authors.initials: M
authors.lastname: King
authors.forename: G
authors.initials: G
authors.lastname: Salomons
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: O
authors.initials: O
authors.lastname: Hardiman
mesh_terms: D000293:Adolescent; D000429:Alcohol Oxidoreductases / Q000172:deficiency* / Q000235:genetics*; D001921:Brain / Q000473:pathology; D003937:Diagnosis, Differential; D005182:Flavin-Adenine Dinucleotide / Q000378:metabolism*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation
chemical_list: D005182:Flavin-Adenine Dinucleotide; D000429:Alcohol Oxidoreductases; C023858:2-hydroxyglutarate dehydrogenase