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Medical Dictionary

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Fabry disease

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Fabry disease Fabry disease is a genetic disease caused by a mutation in the GLA gene, resulting in a deficiency of the enzyme alpha-galactosidase A, also known as ceramide trihexosidase. This enzyme is essential to the metabolism of a fat compound known as globotriaosylceramide. Without alpha-galactosidase A, this fatty substance accumulates in the walls of blood vessels, leading to narrowing and decreased blood flow to the tissues normally supplied by these vessels.
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Researchers from Queen Mary, University of London, have developed a new gene test that detects precancerous cells in patients with mouth lesions. They think that the test could offer the possibility of early and[...]

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