title: Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay.
authors.affiliation: Department of Chemical Pathology, St. James's Hospital, Leeds, UK.
authors.forename: M J
authors.initials: MJ
authors.lastname: Henderson
authors.forename: K
authors.initials: K
authors.lastname: Ward
authors.forename: H A
authors.initials: HA
authors.lastname: Simmonds
authors.forename: J A
authors.initials: JA
authors.lastname: Duley
authors.forename: P M
authors.initials: PM
authors.lastname: Davies
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency*; D002851:Chromatography, High Pressure Liquid; D002658:Developmental Disabilities / Q000150:complications / Q000201:enzymology*; D006801:Humans; D007223:Infant; D008297:Male; D009422:Nervous System Diseases / Q000150:complications / Q000652:urine; D011743:Pyrimidines / Q000652:urine; D012640:Seizures / Q000150:complications / Q000652:urine; D013056:Spectrophotometry, Ultraviolet
chemical_list: D011743:Pyrimidines; D000581:Amidohydrolases; C020047:dihydropyrimidinase