Found 3 datasets matching "fabry-disease".
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Background Fabry disease is an X-linked recessive lysosomal storage disease resulting in the cellular accumulation of globotriaosylceramide particularly globotriaosylceramide. The...
Search relevance: 252.96 | Views last month: 1 -
Background Fabry disease is a lysosomal X-linked enzyme deficiency of α-galactosidase A associated with an increased mortality and morbidity due to renal failure, cardiac disease and...
Search relevance: 229.31 | Views last month: 1 -
Background Fabry disease (FD, OMIM 301500) is an X-linked inborn error of glycosphingolipid metabolism due to the deficient activity of alpha-galactosidase A, a lysosomal enzyme. While...
Search relevance: 181.51 | Views last month: 2