Heritable urea cycle enzyme deficiency-liver disease in 16 patients.
D000293:Adolescent; D000328:Adult; D000641:Ammonia / Q000097:blood; D001707:Biopsy, Needle; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology*; D008107:Liver Diseases / Q000209:etiology / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D008930:Mitochondria, Liver / Q000201:enzymology; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D010770:Phosphotransferases / Q000172:deficiency*; D012729:Sex Chromosome Aberrations
D000641:Ammonia; D010770:Phosphotransferases; D002222:Carbamoyl-Phosphate Synthase (Ammonia)