title: [Inborn errors of pyrimidine metabolism].
authors.affiliation: Department of Pediatrics, Nagoya City University Medical School.
authors.forename: S
authors.initials: S
authors.lastname: Sumi
authors.forename: T
authors.initials: T
authors.lastname: Ito
authors.forename: A
authors.initials: A
authors.lastname: Ueta
mesh_terms: D003937:Diagnosis, Differential; D042943:Dihydrouracil Dehydrogenase (NADP); D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D010088:Oxidoreductases / Q000172:deficiency; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000209:etiology / Q000503:physiopathology; D012640:Seizures / Q000209:etiology; D014498:Uracil / Q000031:analogs & derivatives* / Q000652:urine
chemical_list: C007419:dihydrouracil; D014498:Uracil; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP)