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- W2091639281 abstract "Fabry’s disease, also known as Fabry-Anderson disease or angiokeratoma corporis diffusum, is an Xlinked recessive sphingolipidosis resulting from the defective activity of the lysosomal enzyme α-galactosidase A, leading to the accumulation of natural glycosphingolipids in the plasma and in the lysosomes of cells of many tissues, including the heart. This material is present in all cardiac tissues, the greatest concentration being in the mitral valve and left ventricular myocardium.1 Pathologically, increased myocardial wall thickness and mitral valve prolapse are seen grossly.2 Progressive accumulation of glycosphingolipids in the vascular system is responsible for many clinical manifestations of Fabry’s disease.1 Homozygous male patients show the most pronounced pathologic features and have a short life expectancy.Death usually occurs from renal,cardiac, or cerebral complications of the vascular disease. Heterozygous female patients have normal life expectancy but may have some pathologic features, including some increase in myocardial wall thickness.3,4 The disease-causing gene is located at Xq21.3-Xq22, and full-length cDNA has been isolated and sequenced.2 Clinical Manifestations" @default.
- W2091639281 created "2016-06-24" @default.
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- W2091639281 date "2000-02-01" @default.
- W2091639281 modified "2023-09-30" @default.
- W2091639281 title "Echocardiographic Features of Genetic Diseases: Part 2. Storage Disease" @default.
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- W2091639281 doi "https://doi.org/10.1016/s0894-7317(00)90031-2" @default.
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