The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies

Autor: Jesús Egido, Miguel Viana-Baptista, João Paulo Oliveira, Eduardo Gutiérrez-Rivas, Dominique P. Germain, Helena Alves, Diego Garcia, Scott C. Garman, Maria Fenollar-Cortés, Raluca Oancea, Angel Gallegos-Villalobos, Luis Manuel Salazar-Martín, Sebastian Mas, Jesús Solera-Garcia, Paloma Péres, Alberto Ortiz, José Antonio García-Robles, António Caldeira-Gomes, Marta Camprecios, José Antonio Herrero, Susana Ferreira

Publikováno v: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Depósito Digital e-UCJC
Universidad Camilo José Cela (UCJC)

Lysosomal α-galactosidase A (α-Gal) is the enzyme deficient in Fabry disease (FD), an X-linked glycosphingolipidosis caused by pathogenic mutations affecting the GLA gene. The early-onset, multi-systemic FD classical phenotype is associated with ab

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7e79442af92c987551d709bb0091189
https://hdl.handle.net/20.500.12530/23315