Purine nucleoside phosphorylase deficiency; genetic studies in a Dutch family.
D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D007700:Kinetics; D008297:Male; D010375:Pedigree; D010430:Pentosyltransferases / Q000172:deficiency*; D011683:Purine-Nucleoside Phosphorylase / Q000097:blood / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*
D010430:Pentosyltransferases; D011683:Purine-Nucleoside Phosphorylase