Further evidence for a 'new' purine defect, inosine triphosphate (ITP) pyrophosphohydrolase deficiency

Adv Exp Med Biol. 1989:253A:97-102. doi: 10.1007/978-1-4684-5673-8_15.
No abstract available

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Deaminase / blood*
  • Adenosine Deaminase / deficiency
  • Adenosine Deaminase / genetics
  • Erythrocytes / enzymology
  • Erythrocytes / metabolism
  • Female
  • Humans
  • Infant
  • Inosine Triphosphatase
  • Male
  • Mutation
  • Nucleoside Deaminases / blood*
  • Pedigree
  • Pyrophosphatases / blood
  • Pyrophosphatases / deficiency*
  • Pyrophosphatases / genetics

Substances

  • Nucleoside Deaminases
  • Adenosine Deaminase
  • Pyrophosphatases