title: A novel ALDH5A1 mutation in a patient with succinic semialdehyde dehydrogenase deficiency.
authors.forename: Jeffrey Sung-Shing
authors.initials: JS
authors.lastname: Kwok
authors.forename: Chi Lap
authors.initials: CL
authors.lastname: Yuen
authors.forename: Lap Kay
authors.initials: LK
authors.lastname: Law
authors.forename: Nelson Leung-Sang
authors.initials: NL
authors.lastname: Tang
authors.forename: Sharon Wan-Wah
authors.initials: SW
authors.lastname: Cherk
authors.forename: Yuet Ping
authors.initials: YP
authors.lastname: Yuen
mesh_terms: D000143:Acids; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000652:urine; D009154:Mutation; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency / Q000235:genetics*
chemical_list: D000143:Acids; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase