Distinct neurological syndrome in two brothers with hyperuricaemia

Lancet. 1992 Nov 7;340(8828):1167-8. doi: 10.1016/0140-6736(92)93202-x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Face / abnormalities*
  • Humans
  • Male
  • Purine-Pyrimidine Metabolism, Inborn Errors / genetics*
  • Ribose-Phosphate Pyrophosphokinase / genetics*
  • Syndrome
  • Uric Acid / blood*

Substances

  • Uric Acid
  • Ribose-Phosphate Pyrophosphokinase