[Inborn errors of pyrimidine metabolism].
Sumi
S
S
Department of Pediatrics, Nagoya City University Medical School.
Ito
T
T
Ueta
A
A
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
C007419:dihydrouracil; D014498:Uracil; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP)