Articles with "fabry nephropathy" as a keyword



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Enzyme replacement therapy dose and Fabry nephropathy

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Published in 2018 at "Nephrology Dialysis Transplantation"

DOI: 10.1093/ndt/gfy089

Abstract: In Fabry disease (FD), GLA mutations cause an enzyme deficiency, glycosphingolipid accumulation, and potentially lethal kidney, heart and central nervous system involvement [1]. Globotriaosylceramide (Gb3) is the best-characterized accumulated glycosphingolipid, but the relative increase in… read more here.

Keywords: fabry nephropathy; replacement therapy; fabry; enzyme replacement ... See more keywords
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Urinary-derived extracellular vesicles reveal a distinct microRNA signature associated with the development and progression of Fabry nephropathy

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Published in 2023 at "Frontiers in Medicine"

DOI: 10.3389/fmed.2023.1143905

Abstract: Introduction Early initiation is essential for successful treatment of Fabry disease, but sensitive and noninvasive biomarkers of Fabry nephropathy are lacking. Urinary extracellular vesicles (uEVs) represent a promising source of biomarkers of kidney involvement. Among… read more here.

Keywords: development progression; progression; fabry nephropathy; progression fabry ... See more keywords