Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation

Clin Genet. 2011 Nov;80(5):500-2. doi: 10.1111/j.1399-0004.2011.01643.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Cerebral Infarction / etiology*
  • Fabry Disease / complications
  • Fabry Disease / diagnosis
  • Fabry Disease / genetics*
  • Female
  • Glycolipids / blood
  • Humans
  • Middle Aged
  • Sphingolipids / blood
  • X Chromosome Inactivation*

Substances

  • Glycolipids
  • Sphingolipids
  • globotriaosyl lysosphingolipid