Diagnosing Fabry disease--delays and difficulties within discordant siblings

QJM. 2015 Jul;108(7):585-90. doi: 10.1093/qjmed/hct024. Epub 2013 Feb 1.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Enzyme Replacement Therapy / methods
  • Fabry Disease / complications
  • Fabry Disease / diagnosis*
  • Fabry Disease / drug therapy
  • Fabry Disease / genetics*
  • Genotype
  • Heart Diseases / diagnosis
  • Heart Diseases / etiology
  • Heart Diseases / genetics
  • Humans
  • Kidney Failure, Chronic / etiology
  • Kidney Failure, Chronic / genetics
  • Magnetic Resonance Imaging
  • Male
  • Mutation
  • Pedigree
  • Phenotype
  • Siblings