title: Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia.
authors.affiliation: Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX 75226, USA.
authors.forename: K M
authors.initials: KM
authors.lastname: Gibson
authors.forename: A E
authors.initials: AE
authors.lastname: Doskey
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: C
authors.initials: C
authors.lastname: Morlat
mesh_terms: 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
chemical_list: D012978:Sodium Oxybate; D000445:Aldehyde Oxidoreductases; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase