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Frédéric Barbey on Muck Rack

Frédéric Barbey

As seen in: Swiss Medical Weekly
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Swiss Medical Weekly - Article

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By Juerg Schwitter, Pierre Monney, Salah Dine Qanadli, Steven Hajdu, Christel Tran, Olivier Dormond, Frédéric Barbey
| Swiss Medical Weekly Verified
Fabry disease is a rare X-linked disorder caused by deficiency of the lysosomal enzyme alpha-galactosidase A (?-Gal A). This defect leads to progressive accumulation of glycosphingolipids (GSL) in many tissues and organs, and in particular in endothelial and vascular smooth muscle cells (VSMC) of the arterial tree [1]. Males affected by the classic form of the disease, defined as a residual ?-Gal A activity <1%, develop vascular abnormalities.
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