Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia.
Gibson
K M
KM
Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX 75226, USA.
Doskey
A E
AE
Rabier
D
D
Jakobs
C
C
Morlat
C
C
D000293:Adolescent; D000445:Aldehyde Oxidoreductases / Q000172:deficiency*; D002648:Child; D005190:Family; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D009510:New Caledonia; D012978:Sodium Oxybate / Q000652:urine; D050644:Succinate-Semialdehyde Dehydrogenase
D012978:Sodium Oxybate; D000445:Aldehyde Oxidoreductases; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase