Fabry disease in females: organ involvement and clinical outcomes compared with the general population

Abstract excerpt

Fabry disease (FD) is a rare, X-linked, progressive multi-system disorder of glycosphingolipid metabolism that causes cellular and organ damage in multiple body systems. FD has not been studied as extensively in females as in males due to greater heterogeneity of presentation and variability of disease course in females. Furthermore, despite published evidence to the contrary, females are still often referred to...

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