Purine nucleoside phosphorylase deficiency; genetic studies in a Dutch family

Adv Exp Med Biol. 1980:122A:367-73. doi: 10.1007/978-1-4615-9140-5_60.
No abstract available

MeSH terms

  • Erythrocytes / enzymology
  • Female
  • Genetic Carrier Screening
  • Homozygote
  • Humans
  • Kinetics
  • Male
  • Pedigree
  • Pentosyltransferases / deficiency*
  • Purine-Nucleoside Phosphorylase / blood
  • Purine-Nucleoside Phosphorylase / deficiency*
  • Purine-Pyrimidine Metabolism, Inborn Errors / enzymology
  • Purine-Pyrimidine Metabolism, Inborn Errors / genetics*

Substances

  • Pentosyltransferases
  • Purine-Nucleoside Phosphorylase