Article
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
Molecular genetics and metabolism - 1 Feb 2015
Ferreira Susana, Ortiz Alberto, Germain Dominique P, Viana-Baptista Miguel, Caldeira-Gomes António, Camprecios Marta, Fenollar-Cortés Maria, Gallegos-Villalobos Ángel, Garcia Diego, García-Robles José Antonio, Egido Jesús, Gutiérrez-Rivas Eduardo, Herrero José Antonio, Mas Sebastián, Oancea Raluca, Péres Paloma, Salazar-Martín Luis Manuel, Solera-Garcia Jesús, Alves Helena, Garman Scott C, Oliveira João Paulo
Abstract excerpt
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 absent or severe enzyme deficiency, as measured by...
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