Diagnosis and treatment of inborn errors of purine and pyrimidine metabolism: an overview.
Simmonds
H A
HA
Purine Research Laboratory, UMDS Guy's Hospital, London, GB.
D019411:Clinical Laboratory Techniques; D005183:Failure to Thrive / Q000209:etiology; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000378:metabolism; D008954:Models, Biological; D009422:Nervous System Diseases / Q000235:genetics / Q000378:metabolism; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy*
D007041:Hypoxanthine Phosphoribosyltransferase