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Fabry disease: Difference between revisions
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Fabry disease is a genetic condition involving lysosomal storage | Fabry disease is a genetic condition involving lysosomal storage <ref>https://de.wikipedia.org/wiki/Morbus_Fabry</ref>is an X-linked disorder caused by alpha-galactosidase A deficiency | ||
<ref>https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0877-4 | <ref>https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0877-4 | ||
</ref> | </ref> | ||
{{disease|Fabry disease|E75.2}} | |||
<gallery>File:Morbus Fabry affected organs.svg.png</gallery> | <gallery>File:Morbus Fabry affected organs.svg.png</gallery> | ||
[[migalastat]] or 1-deoxygalactonojirimycin received an orphan drug approval | [[migalastat]] or 1-deoxygalactonojirimycin received an orphan drug approval |
Revision as of 03:18, 11 August 2018
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