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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830917/
https://www.ncbi.nlm.nih.gov/pubmed/36624527
http://dx.doi.org/10.1186/s13023-022-02599-w

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