Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. A study of a family

Am J Med. 1970 Feb;48(2):148-61. doi: 10.1016/0002-9343(70)90111-7.
No abstract available

MeSH terms

  • Adolescent
  • Adult
  • Carbon Isotopes
  • Child
  • Child, Preschool
  • Female
  • Glucosyltransferases / metabolism*
  • Glutaminase / metabolism
  • Glycine
  • Gout / enzymology
  • Humans
  • Hypoxanthines / urine
  • Kidney / enzymology
  • Kidney / physiopathology
  • Kidney Function Tests
  • Male
  • Pedigree
  • Purine-Pyrimidine Metabolism, Inborn Errors / genetics*
  • Purine-Pyrimidine Metabolism, Inborn Errors / physiopathology
  • Uric Acid / biosynthesis
  • Uric Acid / blood*
  • Uric Acid / urine
  • Urinary Calculi / enzymology*
  • Xanthines / cerebrospinal fluid
  • Xanthines / urine

Substances

  • Carbon Isotopes
  • Hypoxanthines
  • Xanthines
  • Uric Acid
  • Glucosyltransferases
  • Glutaminase
  • Glycine