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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…
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Keywords:
fabry nephropathy;
replacement therapy;
fabry;
enzyme replacement ... See more keywords
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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…
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Keywords:
development progression;
progression;
fabry nephropathy;
progression fabry ... See more keywords