Associated Papers
Concurrent Fabry disease and IgA nephropathy in a patient with Crohn's disease: A case report.
Choi H et al.
Nephrology (carlton, Vic.), 2025
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
Germain DP et al.
Journal of Medical Genetics, 2020
32161151 (PubMed )
Supplement: jmedgenet-2019-106467supp001.pdf
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
Major Organic Involvement in Women with Fabry Disease in Argentina.
Perretta F et al.
Thescientificworldjournal, 2018
Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina.
Cabrera G et al.
Molecular Genetics and Metabolism Reports, 2017
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
27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Unknown
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
Gastrointestinal involvement in Fabry disease. So important, yet often neglected.
Politei J et al.
Clinical Genetics, 2016
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.
Wijburg FA et al.
Plos One, 2015
The pulvinar sign in Fabry patients: the first report in female patients.
Burlina AP et al.
Journal of Neurology, 2012
Fabry nephropathy. Role of nephrologist and clinical variables associated with the diagnosis.
Jaurretche S et al.
Nefrologia, 0
Direct Correlation between Age at Diagnosis and Severity of Nephropathy in Fabry Disease Patients.
Jaurretche SPA et al.
Indian Journal of Nephrology, 0
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