Problems in diagnosis and treatment of adenine and hypoxanthine-guanine phosphoribosyltransferase deficiency.
D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007223:Infant; D008297:Male; D010430:Pentosyltransferases / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy; D012867:Skin / Q000201:enzymology
D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase