Clinical and genetic analysis of Fabry disease: report of six cases including three heterozygous females

J Dermatol Sci. 2008 Oct;52(1):61-4. doi: 10.1016/j.jdermsci.2008.04.009. Epub 2008 Jun 13.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Exons / genetics
  • Fabry Disease / diagnosis
  • Fabry Disease / genetics*
  • Fabry Disease / pathology
  • Female
  • Heterozygote
  • Humans
  • Japan
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Trihexosylceramides / urine
  • alpha-Galactosidase / blood
  • alpha-Galactosidase / genetics*

Substances

  • Trihexosylceramides
  • globotriaosylceramide
  • alpha-Galactosidase