Associated Papers
Urinary VEGF-A165b mRNA expression in Fabry disease: Pilot study.
Jaurretche S et al.
Nefrologia, 2026
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
8th Update on Fabry Disease: Biomarkers, Progression and Treatment Opportunities in 2024.
Unknown Author
Nephron, 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
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
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.
Maruyama H et al.
Current Issues in Molecular Biology, 2021
Frequency of Fabry disease in a juvenile idiopathic arthritis cohort.
Paim-Marques L et al.
Pediatric Rheumatology Online Journal, 2021
A classic variant of Fabry disease in a family with the M296I late-onset variant.
Hirashio S et al.
Cen Case Reports, 2021
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
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
Lukas J et al.
International Journal of Molecular Sciences, 2020
Fabry Disease with Pacemaker Implantation as the Initial Event.
Kato Y et al.
Internal Medicine (tokyo, Japan), 2019
Prevalence of Fabry disease in male dialysis patients: Argentinean screening study.
Frabasil J et al.
Jimd Reports, 2019
Clinical Diversity in Patients with Anderson-fabry Disease with the R301Q Mutation.
Yamamoto S et al.
Internal Medicine (tokyo, Japan), 2019
Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
Maruyama H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Brain MRI findings in children and adolescents with Fabry disease.
Marchesoni C et al.
Journal of the Neurological Sciences, 2018
Fabry disease in a Japanese population-molecular and biochemical characteristics.
Sakuraba H et al.
Molecular Genetics and Metabolism Reports, 2018
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase.
Cimmaruta C et al.
Bmc Bioinformatics, 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
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
Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies.
Thurberg BL 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
Expression of uPAR in Urinary Podocytes of Patients with Fabry Disease.
Trimarchi H et al.
International Journal of Nephrology, 2017
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
Liguori R et al.
Plos One, 2017
Early Renal Involvement in a Girl with Classic Fabry Disease.
Perretta F et al.
Case Reports in Nephrology, 2017
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.
Citro V et al.
International Journal of Molecular Sciences, 2016
When arthralgia is not arthritis.
Politei J et al.
European Journal of Rheumatology, 2016
Increased urinary CD80 excretion and podocyturia in Fabry disease.
Trimarchi H et al.
Journal of Translational Medicine, 2016
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP et al.
The New England Journal of Medicine, 2016
Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations--different outcome?
Politei J et al.
Clinical Genetics, 2016
Gastrointestinal involvement in Fabry disease. So important, yet often neglected.
Politei J et al.
Clinical Genetics, 2016
De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack.
Romani I et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2015
Fabry disease: multidisciplinary evaluation after 10 years of treatment with agalsidase Beta.
Juan P et al.
Jimd Reports, 2014
Unfolded protein response in Gaucher disease: from human to Drosophila.
Maor G et al.
Orphanet Journal of Rare Diseases, 2013
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
Lukas J et al.
Plos Genetics, 2013
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.
Germain DP et al.
Orphanet Journal of Rare Diseases, 2012
Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature.
Thurberg BL et al.
Human Pathology, 2012
Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation.
Warnock DG et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012
Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry.
Wilcox WR et al.
Molecular Genetics and Metabolism, 2012
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.
Andreotti G et al.
Orphanet Journal of Rare Diseases, 2011
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
Wu X et al.
Human Mutation, 2011
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
Treatment with agalsidase beta during pregnancy in Fabry disease.
Politei JM
The Journal of Obstetrics and Gynaecology Research, 2010
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.
Shin SH et al.
Pharmacogenetics and Genomics, 2008
A successful approach for the detection of Fabry patients in Argentina.
Rozenfeld PA et al.
Clinical Genetics, 2006