Current and Investigational Therapeutics for Fabry Disease

Fabry disease (FD) is an X-linked lysosomal storage disease caused by a deficiency in the lysosomal enzyme α-galactosidase (α-GAL). This in turn leads to the buildup of globotriaosylceramide, resulting classically in progressive kidney disease, peripheral neuropathy, early-onset cerebrovascular dise...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Kidney Int Rep
Asıl Yazarlar: Felis, Andrew, Whitlow, Michael, Kraus, Abigayle, Warnock, David G., Wallace, Eric
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2019
Konular:
Review
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7136345/
https://ncbi.nlm.nih.gov/pubmed/32274449
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ekir.2019.11.013
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