Efficacy of Enzyme and Substrate Reduction Therapy with a Novel Antagonist of Glucosylceramide Synthase for Fabry Disease

Fabry disease, an X-linked glycosphingolipid storage disorder, is caused by the deficient activity of α-galactosidase A (α-Gal A). This results in the lysosomal accumulation in various cell types of its glycolipid substrates, including globotriaosylceramide (GL-3) and lysoglobotriaosylceramide (glob...

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Detaylı Bibliyografya
Yayımlandı:Mol Med
Asıl Yazarlar: Ashe, Karen M, Budman, Eva, Bangari, Dinesh S, Siegel, Craig S, Nietupski, Jennifer B, Wang, Bing, Desnick, Robert J, Scheule, Ronald K, Leonard, John P, Cheng, Seng H, Marshall, John
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: ScholarOne 2015
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Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4559530/
https://ncbi.nlm.nih.gov/pubmed/25938659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/molmed.2015.00088
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