Erythrocyte GTP depletion in PNP deficiency presenting with haemolytic anaemia and hypouricaemia.
D000743:Anemia, Hemolytic / Q000097:blood* / Q000150:complications; D001792:Blood Platelets / Q000378:metabolism; D002675:Child, Preschool; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D006160:Guanosine Triphosphate / Q000097:blood*; D006801:Humans; D008297:Male; D009711:Nucleotides / Q000097:blood; D010375:Pedigree; D010430:Pentosyltransferases / Q000172:deficiency*; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000097:blood* / Q000150:complications / Q000235:genetics; D014527:Uric Acid / Q000097:blood*
D009711:Nucleotides; D014527:Uric Acid; D006160:Guanosine Triphosphate; D010430:Pentosyltransferases; D011683:Purine-Nucleoside Phosphorylase