title: Succinic semialdehyde dehydrogenase deficiency in siblings: clinical heterogeneity and response to early treatment.
authors.affiliation: Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Australia. petersh@cryptic.rch.unimelb.edu.au
authors.forename: H
authors.initials: H
authors.lastname: Peters
authors.forename: M
authors.initials: M
authors.lastname: Cleary
authors.forename: A
authors.initials: A
authors.lastname: Boneh
mesh_terms: D000293:Adolescent; D000445:Aldehyde Oxidoreductases / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000188:drug therapy* / Q000201:enzymology / Q000235:genetics; D009679:Nuclear Family; D050644:Succinate-Semialdehyde Dehydrogenase
chemical_list: D000445:Aldehyde Oxidoreductases; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase