Phosphoribosylpyrophosphate synthetase superactivity: detection, characterization of underlying defects, and treatment

Adv Exp Med Biol. 1984:165 Pt A:91-96. doi: 10.1007/978-1-4684-4553-4_16.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Child
  • Fibroblasts / enzymology
  • Humans
  • Kinetics
  • Middle Aged
  • Mutation*
  • Phosphotransferases / metabolism*
  • Purine-Pyrimidine Metabolism, Inborn Errors / diagnosis*
  • Ribose-Phosphate Pyrophosphokinase / genetics
  • Ribose-Phosphate Pyrophosphokinase / metabolism*

Substances

  • Phosphotransferases
  • Ribose-Phosphate Pyrophosphokinase