title: Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism.
authors.affiliation: University Children's Hospital Het Wilhelmina Kinderziekenhuis, Nieuwe Gracht, Utrecht, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: P
authors.initials: P
authors.lastname: Rovers
authors.forename: P K
authors.initials: PK
authors.lastname: de Bree
authors.forename: C H
authors.initials: CH
authors.lastname: Schreuder
authors.forename: H
authors.initials: H
authors.lastname: Beukenhorst
authors.forename: L
authors.initials: L
authors.lastname: Dorland
authors.forename: R
authors.initials: R
authors.lastname: Berger
mesh_terms: D000409:Alanine / Q000652:urine; D000581:Amidohydrolases / Q000172:deficiency*; D002851:Chromatography, High Pressure Liquid; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007223:Infant; D008099:Liver / Q000378:metabolism; D008297:Male; D009504:Neutrophils / Q000378:metabolism; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000652:urine*; D013056:Spectrophotometry, Ultraviolet; D014498:Uracil / Q000031:analogs & derivatives / Q000652:urine
chemical_list: C007419:dihydrouracil; D014498:Uracil; D000581:Amidohydrolases; C020047:dihydropyrimidinase; D000409:Alanine