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Article

High Variability of Fabry Disease Manifestations in an Extended Italian Family

1 Jan 2015

Abstract excerpt

Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolase α-galactosidase A (α-GAL). The impairment of α-GAL results in the accumulation of undegraded glycosphingolipids in lysosomes and subsequent cell and microvascular dysfunctions. This study reports the clinical, biochemical, and molecular characterization of 15 members of the same family. Eight...

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PMID: 25977923
DOI: 10.1155/2015/504784

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