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...

Descripción completa

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

Internet

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

Ejemplares similares