Hypoxanthine-guanine phosphoribosyl transferase (HGPRT) deficiency in a girl.
D000228:Adenine Phosphoribosyltransferase / Q000097:blood; D004796:Clinical Enzyme Tests; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood / Q000172:deficiency*; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis*; D008297:Male
D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase