Browsing by Subject "Fabry disease"

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CASE REPORT: FIRST TWO IDENTIFIED CASES OF FABRY DISEASE IN CENTRAL ASIA

Cainelli, Francesca; Argandykov, Dias; Kaldarbekov, Dauren; Mukarov, Murat; Tran Thi Phuong, Liên; Germain, Dominique P. (Frontiers Media S.A., 2021-04-27)

Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked inherited, genetic disease due to the functional deficiency of lysosomal α-galactosidase (α-GAL) that leads to the accumulation of glycosphingolipids ...