title: Urinary uracil concentrations are a useful guide to genetic disorders associated with neurological deficits and abnormal pyrimidine metabolism.
authors.affiliation: Purine Research Laboratories, UMDS Guy's Hospital, UK.
authors.forename: P M
authors.initials: PM
authors.lastname: Davies
authors.forename: L D
authors.initials: LD
authors.lastname: Fairbanks
authors.forename: J A
authors.initials: JA
authors.lastname: Duley
authors.forename: H A
authors.initials: HA
authors.lastname: Simmonds
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009422:Nervous System Diseases / Q000235:genetics* / Q000652:urine*; D009954:Ornithine Carbamoyltransferase / Q000378:metabolism; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics* / Q000652:urine*; D012016:Reference Values; D014498:Uracil / Q000652:urine*
chemical_list: D014498:Uracil; D009954:Ornithine Carbamoyltransferase