A novel mutation as a cause of L-2-hydroxyglutaric aciduria.
O'Connor
Ged
G
King
M
M
Salomons
G
G
Jakobs
C
C
Hardiman
O
O
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
D005182:Flavin-Adenine Dinucleotide; D000429:Alcohol Oxidoreductases; C023858:2-hydroxyglutarate dehydrogenase