title: A new family with APRT partial deficiency: studies on purine and uric acid metabolism.
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D000293:Adolescent; D002250:Carbon Radioisotopes; D005260:Female; D006801:Humans; D008297:Male; D008657:Metabolic Clearance Rate; D010430:Pentosyltransferases / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism*; D011865:Radioisotope Dilution Technique; D014527:Uric Acid / Q000378:metabolism
chemical_list: D002250:Carbon Radioisotopes; D014527:Uric Acid; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase