A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women.

Abstract excerpt

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A activity. Although historically considered a male disease, it is now recognized that heterozygous women can present with a wide range of symptoms. However, diagnosis in women remains challenging, as enzymatic activity may be normal. A meta-analysis of 67 studies was...

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