Enzymatic Defect in Fabry's Disease. Ceramidetrihexosidase Deficiency

N Engl J Med. 1967 May 25;276(21):1163-7. doi: 10.1056/NEJM196705252762101.

Publication types

  • Clinical Trial
  • Controlled Clinical Trial

MeSH terms

  • Adult
  • Angiokeratoma / genetics
  • Angiokeratoma / metabolism*
  • Biopsy
  • Enzymes
  • Female
  • Glycolipids / metabolism*
  • Humans
  • Intestinal Mucosa / enzymology
  • Intestine, Small
  • Lipid Metabolism, Inborn Errors*
  • Male
  • Middle Aged
  • Tritium

Substances

  • Enzymes
  • Glycolipids
  • Tritium