Neonatal diagnosis of orotic aciduria: an experience with one family.
D002648:Child; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009963:Orotic Acid / Q000652:urine*; D009964:Orotidine-5'-Phosphate Decarboxylase / Q000172:deficiency; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics
D009963:Orotic Acid; D009964:Orotidine-5'-Phosphate Decarboxylase