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- W2511544551 abstract "Fabry disease, an X-linked lysosomal storage disorder due to α-galactosidase A deficiency, is associated with dysfunction of various cell types and results in a systemic vasculopathy. We describe a 29-year-old woman with Fabry disease presenting with severe cardiac and renal manifestations. Gene analysis demonstrated a novel mutation (K391E) in the GLA gene. Enzyme replacement therapy (ERT) was started with agalsidase-β after confirming the diagnosis of Fabry disease, resulting in normalization of LV systolic function and improvement of renal function. As early therapy is crucial for preventing life-threatening sequelae, clinicians should consider Fabry disease in young patients presenting with cardiac and renal disease without any likely causes." @default.
- W2511544551 created "2016-09-16" @default.
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- W2511544551 date "2016-01-01" @default.
- W2511544551 modified "2023-10-18" @default.
- W2511544551 title "Novel <i>α</i>-Galactosidase A Mutation (K391E) in a Young Woman With Severe Cardiac and Renal Manifestations of Fabry Disease" @default.
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- W2511544551 doi "https://doi.org/10.1536/ihj.15-475" @default.
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