title: Adenine phosphoribosyltransferase deficiency in man. Report of a second family.
mesh_terms: D000225:Adenine; D000255:Adenosine Triphosphate / Q000378:metabolism; D002478:Cells, Cultured; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004912:Erythrocytes / Q000201:enzymology* / Q000378:metabolism; D005260:Female; D006207:Half-Life; D006579:Heterozygote; D006358:Hot Temperature; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D010430:Pentosyltransferases; D011685:Purine Nucleotides / Q000378:metabolism; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications; D011687:Purines / Q000096:biosynthesis; D014527:Uric Acid / Q000097:blood / Q000652:urine
chemical_list: D011685:Purine Nucleotides; D011687:Purines; D014527:Uric Acid; D000255:Adenosine Triphosphate; D010430:Pentosyltransferases; D000225:Adenine