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Article

The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.

Orphanet journal of rare diseases - 9 Jan 2023

Sánchez Rosario, Ripoll-Vera Tomás, López-Mendoza Manuel, de Juan-Ribera Joaquín, Gimeno Juan Ramón, Hermida Álvaro, Ruz-Zafra María Aurora, Torregrosa José Vicente, Mora Antonia, García-Pinilla José Manuel, Fortuny Elena, Aguinaga-Barrilero Ana, Torra Roser

Abstract excerpt

BACKGROUND: Fabry disease (FD) is an X-linked condition caused by variants in the GLA gene. Since females have two X chromosomes, they were historically thought to be carriers. Although increased knowledge has shown that females often develop the disease, data from Spain and other countries reported that females were undertreated. The aim of this study was to provide a wider and more recent description of the...

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Identifiers

PMID: 36624527
DOI: 10.1186/s13023-022-02599-w
PMCID: PMC9830917

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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