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Fabry disease

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Fabry disease is a genetic condition involving lysosomal storage [1]is an X-linked disorder caused by alpha-galactosidase A deficiency [2]

Disease classification WHO
Fabry disease E75.2

migalastat or 1-deoxygalactonojirimycin received an orphan drug approval [3]

  • improves diarrhea

https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0813-7

Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY


Anderson-Fabry disease in heart failure

Galafold [summary of product characteristics]. Buckinghamshire, UK; Amicus Therapeutics UK Ltd: 2017

  1. ↑ https://de.wikipedia.org/wiki/Morbus_Fabry
  2. ↑ https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0877-4
  3. ↑ https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/UCM616598.htm
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