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Recombinant α-galactosidase A therapy was evaluated for the amelioration of cardiovascular manifestations in patients with Fabry disease, though no quantitative results were reported in the abstract.
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abry disease, or Anderson-Fabry disease, is an X-linked recessive genetic disease caused by a deficiency of ␣-galactosidase A leading to accumulation of globotriaosylceramide (GL-3) in lysosomes of parenchymal and interstitial cells in multiple organs of the body, including skin, kidneys, and the cardiovascular system. 1 Cardiovascular manifestations in typical Fabry patients develop within the fourth decade and include left ventricular hypertrophy mimicking genetic hypertrophic cardiomyopathy (disorder of mutant contractile proteins) and accelerated coronary artery disease. 1 Cardiovascular manifestations also may develop in "cardiac variant" patients and symptomatic female heterozygotes, but later in life.
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Louis Maximilian Buja (2009) conducted a review in Fabry disease. Recombinant α-Galactosidase A Therapy was evaluated. Recombinant α-galactosidase A therapy was evaluated for the amelioration of cardiovascular manifestations in patients with Fabry disease, though no quantitative results were reported in the abstract.
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