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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 | ||
<ref>https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/UCM616598.htm</ref> | <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://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] | ||
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[https://link.springer.com/article/10.1007%2Fs12551-018-0432-5 Anderson-Fabry disease in heart failure] | [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 | |||
<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
Anderson-Fabry disease in heart failure
Galafold [summary of product characteristics]. Buckinghamshire, UK; Amicus Therapeutics UK Ltd: 2017