Associated Papers
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Successful Management of Pregnancy in a Patient With Fabry Disease Receiving Continuous Enzyme Replacement Therapy: A Case Report and Literature Review.
Kido Y et al.
Cureus, 2025
Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy.
Li L et al.
Frontiers in Genetics, 2025
Baseline Characteristics of Fabry Disease "Amenable" Migalastat Patients in Argentinian Cohort.
Jaurretche S et al.
Global Health, Epidemiology and Genomics, 2024
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
Monda E et al.
Circulation. Genomic and Precision Medicine, 2023
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
Screening for Fabry disease in Argentina in male patients with chronic kidney disease at all stages.
Martin C et al.
Journal of Nephrology, 2022
Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease.
Modrego A et al.
International Journal of Molecular Sciences, 2021
Rapidly progressive aortic stenosis treated with transcatheter aortic valve implantation in a patient with Fabry disease: a case report.
Saccheri MC et al.
European Heart Journal. Case Reports, 2021
Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series.
Fernández P et al.
Jimd Reports, 2019
Brain MRI findings in children and adolescents with Fabry disease.
Marchesoni C et al.
Journal of the Neurological Sciences, 2018
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Benjamin ER et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Impact of cysteine variants on the structure, activity, and stability of recombinant human α-galactosidase A.
Qiu H et al.
Protein Science : a Publication of the Protein Society, 2015
Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.
Serebrinsky G et al.
Molecular Genetics and Metabolism Reports, 2015
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
Ferreira S et al.
Molecular Genetics and Metabolism, 2015
A renal variant of Fabry disease: A case with a novel Gal A hemizygote mutation.
H Mukdsi J et al.
Journal of Nephropathology, 2012
Fabry disease: the many faces of a single disorder.
Torra R et al.
Clinical Kidney Journal, 2012