Matches in SemOpenAlex for { <https://semopenalex.org/work/W1569134475> ?p ?o ?g. }
- W1569134475 abstract "Fabry disease is a rare disease. However, Fabry disease is more common than other inherited lysosomal storage disorders, affecting 1 in 40,000 to 1 in 117,000 worldwide (Mehta et al., 2004, Germain, 2010). Fabry disease is the caused by an inherited deficiency of galactosylgalactosylglucosylceramidase” (EC 3.2.1.14), commonly referred to as ┙galactosidase A (┙-Gal A). As a result, there is progressive cellular accumulation of glycosphingolipids, leading to organ failure and premature death. For decades, only symptomatic therapy was available, that did not prevent the fatal evolution of the disease. In the last decade, two forms of Enzyme Replacement Therapy (ERT), that prevent disease progression as well as potentially reverse symptoms, have been developed. However, these drugs are expensive and do not cure the disease." @default.
- W1569134475 created "2016-06-24" @default.
- W1569134475 creator A5026150892 @default.
- W1569134475 creator A5045038056 @default.
- W1569134475 creator A5060611056 @default.
- W1569134475 creator A5063245254 @default.
- W1569134475 date "2011-11-21" @default.
- W1569134475 modified "2023-10-17" @default.
- W1569134475 title "Fabry Disease: A Metabolic Proteinuric Nephropathy" @default.
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