X-linked inheritance and its implication in the diagnosis and management of female patients in Fabry disease

Rev Med Interne. 2010 Dec:31 Suppl 2:S209-13. doi: 10.1016/S0248-8663(10)70013-8.
No abstract available

MeSH terms

  • Biomarkers / urine
  • Fabry Disease / diagnosis*
  • Fabry Disease / genetics*
  • Fabry Disease / therapy
  • Fabry Disease / urine
  • Female
  • Genes, X-Linked / genetics*
  • Genetic Counseling
  • Humans
  • Trihexosylceramides / urine*

Substances

  • Biomarkers
  • Trihexosylceramides
  • globotriaosylceramide