title: Urea cycle disorders: diagnosis, pathophysiology, and therapy.
authors.affiliation: Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: S W
authors.initials: SW
authors.lastname: Brusilow
authors.forename: N E
authors.initials: NE
authors.lastname: Maestri
mesh_terms: D000293:Adolescent; D000465:Algorithms; D000472:Alkalosis, Respiratory / Q000209:etiology*; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000453:epidemiology / Q000209:etiology / Q000628:therapy*; D000641:Ammonia / Q000097:blood*; D002648:Child; D005260:Female; D006501:Hepatic Encephalopathy / Q000209:etiology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D010375:Pedigree; D016896:Treatment Outcome; D014508:Urea / Q000378:metabolism*
chemical_list: D000641:Ammonia; D014508:Urea