Associated Papers
Enhancing Fabry disease screening and diagnostic efficiency: Integration of enzyme, biomarker, and next-generation sequencing testing.
Pan Y et al.
Molecular Genetics and Metabolism, 2025
Challenges in Fabry disease: the combination of two individually amenable GLA variants may be nonamenable to migalastat.
Fernandes RM et al.
Future Cardiology, 2023
Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?
Azevedo O et al.
American Heart Journal, 2020
p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease.
Carvalho Silva DM et al.
Cardiology, 0
Select a paper to view details