Succinic semialdehyde dehydrogenase deficiency in siblings: clinical heterogeneity and response to early treatment.
Peters
H
H
Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Australia. petersh@cryptic.rch.unimelb.edu.au
Cleary
M
M
Boneh
A
A
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
D000445:Aldehyde Oxidoreductases; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase