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Fabry disease: Difference between revisions

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Fabry disease is a genetic condition involving lysosomal storage (E75.2)<ref>https://de.wikipedia.org/wiki/Morbus_Fabry</ref>
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>


{{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
<ref>https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/UCM616598.htm</ref>
*improves diarrhea
https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0813-7
[https://www.ncbi.nlm.nih.gov/pubmed/30064518 Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY]
[https://link.springer.com/article/10.1007%2Fs12551-018-0432-5 Anderson-Fabry disease in heart failure]
Galafold [summary of product characteristics]. Buckinghamshire, UK; Amicus Therapeutics UK Ltd: 2017


https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/UCM616598.htm
<references/>
<references/>
[[Category:Medicine]]

Latest revision as of 03:21, 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