Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome

Hum Genet. 1981;57(1):39-47. doi: 10.1007/BF00271165.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Allopurinol
  • Erythrocytes / enzymology*
  • Fibroblasts / enzymology
  • Follow-Up Studies
  • Genetic Carrier Screening
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / deficiency*
  • Immune Sera
  • Immunoassay
  • Infant, Newborn
  • Kinetics
  • Lesch-Nyhan Syndrome / enzymology*
  • Lesch-Nyhan Syndrome / genetics
  • Lesch-Nyhan Syndrome / metabolism
  • Male
  • Mutation
  • Purines / metabolism

Substances

  • Immune Sera
  • Purines
  • Allopurinol
  • Hypoxanthine Phosphoribosyltransferase