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Rats deficient in α-galactosidase A develop ocular manifestations of Fabry disease

Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase A. Ocular findings, such as cornea verticillata, cataracts, and retinal vascular tortuosity, serve as important diagnostic markers. We aimed to evaluate ocular phenotypes in α-galactosidase A-deficient (Fa...

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Detaylı Bibliyografya
Yayımlandı:Sci Rep
Asıl Yazarlar: Miller, James J., Aoki, Kazuhiro, Reid, Christopher A., Tiemeyer, Michael, Dahms, Nancy M., Kassem, Iris S.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group UK 2019
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6599056/
https://ncbi.nlm.nih.gov/pubmed/31253878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-45837-1
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