title: Adenine phosphoribosyltransferase deficiency: report of a second family.
mesh_terms: D000225:Adenine / Q000494:pharmacology; D000255:Adenosine Triphosphate / Q000097:blood; D003404:Creatinine / Q000378:metabolism; D004355:Drug Stability; D004912:Erythrocytes / Q000187:drug effects / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005632:Fructose / Q000494:pharmacology; D006358:Hot Temperature; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010428:Pentosephosphates / Q000097:blood; D010430:Pentosyltransferases / Q000097:blood / Q000378:metabolism*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D013997:Time Factors; D014527:Uric Acid / Q000378:metabolism
chemical_list: D010428:Pentosephosphates; D014527:Uric Acid; D005632:Fructose; D000255:Adenosine Triphosphate; D003404:Creatinine; D010430:Pentosyltransferases; D000225:Adenine