Associated Papers
Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.
Guo W et al.
Journal of Advanced Research, 2026
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers.
López-Valverde L et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2024
The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.
Sánchez R et al.
Orphanet Journal of Rare Diseases, 2023
[Ophthalmological findings in a female patient with classical Fabry disease].
López-Herrero F et al.
Medicina Clinica, 2022
Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
Rodríguez-Marí A et al.
Human Mutation, 2003
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