[CME. Fabry disease: rare but not to be missed]

Praxis (Bern 1994). 2015 Jul 1;104(14):719-29. doi: 10.1024/1661-8157/a002045.
[Article in German]
No abstract available

Keywords: Anderson-Fabry-Erkrankung; Morbus Fabry; lysosomale Speicherkrankheit.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Brain / pathology
  • Cerebellum / blood supply
  • Cerebral Infarction / diagnosis
  • Cerebral Infarction / genetics
  • Chromosomes, Human, X / genetics
  • Delayed Diagnosis
  • Fabry Disease / diagnosis*
  • Fabry Disease / drug therapy
  • Fabry Disease / genetics
  • Female
  • Humans
  • Inclusion Bodies / ultrastructure
  • Isoenzymes / therapeutic use
  • Kidney / pathology
  • Magnetic Resonance Imaging
  • Microscopy, Electron
  • Myocardium / pathology
  • Rare Diseases*
  • Tomography, X-Ray Computed
  • alpha-Galactosidase / therapeutic use

Substances

  • Isoenzymes
  • alpha-Galactosidase
  • agalsidase beta