A case of severe hypoxanthine-guanine phosphoribosyl transferase deficiency.
D000328:Adult; D004912:Erythrocytes / Q000201:enzymology; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007926:Lesch-Nyhan Syndrome / Q000235:genetics*; D008297:Male
D007041:Hypoxanthine Phosphoribosyltransferase