Associated Papers
Exosome-Based Proteomic Profiling for Biomarker Discovery in Pediatric Fabry Disease: Insights into Early Diagnosis Monitoring.
Lu Z et al.
Biomedicines, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.
Baseline Characteristics of Fabry Disease "Amenable" Migalastat Patients in Argentinian Cohort.
Jaurretche S et al.
Global Health, Epidemiology and Genomics, 2024
Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysis.
Linares D et al.
Molecular Genetics and Metabolism, 2023
Low skeletal muscle mass as an early sign in children with fabry disease.
Lu Z et al.
Orphanet Journal of Rare Diseases, 2023
Functional Characterization and Pharmacological Evaluation of a Novel GLA Missense Mutation Found in a Severely Affected Fabry Disease Family.
Varela P et al.
Nephron, 2020
Brain MRI findings in children and adolescents with Fabry disease.
Marchesoni C et al.
Journal of the Neurological Sciences, 2018
Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?
Politei J et al.
Pediatric Nephrology (berlin, Germany), 2018
Expression of uPAR in Urinary Podocytes of Patients with Fabry Disease.
Trimarchi H et al.
International Journal of Nephrology, 2017
Increased urinary CD80 excretion and podocyturia in Fabry disease.
Trimarchi H et al.
Journal of Translational Medicine, 2016
Copious Podocyturia without Proteinuria and with Normal Renal Function in a Young Adult with Fabry Disease.
Trimarchi H et al.
Case Reports in Nephrology, 2015
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