Abstract:Fabry disease is a lysosomal storage disorder, linked to X chromosome, leading to disruption of glycosphingolipid metabolism due to deficiency of lysosomal α-galactosidase A. The cascade of pathological processes can eventually lead to damage of different organs and systems including cardiovascular system. However, due to polymorphism of clinical manifestations, this disease often remains undiagnosed or diagnosed at terminal multiorgan failure stage. Existing clinical guidelines for management of patients with… Show more
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