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

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

Abstract 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...

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Bibliographic Details
Main Authors: Rosario Sánchez, Tomás Ripoll-Vera, Manuel López-Mendoza, Joaquín de Juan-Ribera, Juan Ramón Gimeno, Álvaro Hermida, María Aurora Ruz-Zafra, José Vicente Torregrosa, Antonia Mora, José Manuel García-Pinilla, Elena Fortuny, Ana Aguinaga-Barrilero, Roser Torra
Format: Article
Language:English
Published: BMC 2023-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Fabry disease
X-linked disorder
GLA variants
Females
Organ involvement
Online Access:https://doi.org/10.1186/s13023-022-02599-w

Internet

https://doi.org/10.1186/s13023-022-02599-w

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