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Article

[Evaluation of patients with Fabry disease in Argentina].

Medicina - 1 Jan 2010

Abstract excerpt

Fabry disease is an X- linked lysosomal disorder due to deficient activity of the enzyme alpha galactosidase A which leads to multisystemic storage of globotriaosylceramide with neurologic, gastrointestinal, cardiac, renal, skin and ophtalmological involvement. Recent studies indicate that heterozygous females develop symptoms similar to the males, but comparative information regarding the relative frequency of...

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PMID: 20228022

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