Associated Papers
Sex Differences in Circulating Inflammatory, Immune, and Tissue Growth Markers Associated with Fabry Disease-Related Cardiomyopathy.
Ivanova MM et al.
Cells, 2025
Fabry Cardiomyopathy: Myocardial Fibrosis, Inflammation, and Down-Regulation of Mannose-6-Phosphate Receptors Cause Low Accessibility to Enzyme Replacement Therapy.
Frustaci A et al.
Journal of the American Heart Association, 2025
Screening for Fabry disease in patients with left ventricular hypertrophy in China: A multicentre and prospective study.
Lin Z et al.
Esc Heart Failure, 2024
Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPPet Study.
Laney DA et al.
Genetics in Medicine Open, 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
Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.
Savostyanov K et al.
Genes, 2023
Circulated TGF-β1 and VEGF-A as Biomarkers for Fabry Disease-Associated Cardiomyopathy.
Ivanova MM et al.
Cells, 2023
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy.
Iacobucci I et al.
International Journal of Molecular Sciences, 2023
A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease.
Hwang S et al.
Medicine, 2022
The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.
Moiseev S et al.
Genes, 2022
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP et al.
Molecular Genetics & Genomic Medicine, 2021
Fabry Disease and the Heart: A Comprehensive Review.
Azevedo O et al.
International Journal of Molecular Sciences, 2021
The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field.
Sorriento D et al.
International Journal of Molecular Sciences, 2021
Case Report: First Two Identified Cases of Fabry Disease in Central Asia.
Cainelli F et al.
Frontiers in Genetics, 2021
In Vitro and In Vivo Amenability to Migalastat in Fabry Disease.
Lenders M et al.
Molecular Therapy. Methods & Clinical Development, 2020
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Sawada T et al.
Molecular Genetics & Genomic Medicine, 2020
Developments in the treatment of Fabry disease.
van der Veen SJ et al.
Journal of Inherited Metabolic Disease, 2020
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
Magnetic Resonance Imaging Findings Related to Stroke Risk in Japanese Patients With Fabry Disease.
Yagita Y et al.
Stroke, 2019
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 2019
Prevalence of Fabry Disease in Korean Men with Left Ventricular Hypertrophy.
Kim WS et al.
Journal of Korean Medical Science, 2019
Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases.
Ivanova MM et al.
Plos One, 2019
The Prevalence and Clinical Features of Fabry Disease in Hemodialysis Patients: Russian Nationwide Fabry Dialysis Screening Program.
Moiseev S et al.
Nephron, 2019
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
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.
Germain DP et al.
Molecular Genetics & Genomic Medicine, 2018
Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases.
Tao YX et al.
Physiological Reviews, 2018
Simple and efficient screening of patients with Fabry disease with high resolution melting.
Pasqualim G et al.
Clinical Biochemistry, 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
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
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP et al.
The New England Journal of Medicine, 2016
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
Lenders M et al.
Orphanet Journal of Rare Diseases, 2016
Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases.
Sánchez-Fernández EM et al.
Chemical Communications (cambridge, England), 2016
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
Lukas J et al.
Human Mutation, 2016
Increased oxidative stress contributes to cardiomyocyte dysfunction and death in patients with Fabry disease cardiomyopathy.
Chimenti C et al.
Human Pathology, 2015
Clinical and genetic predictors of major cardiac events in patients with Anderson-Fabry Disease.
Patel V et al.
Heart (british Cardiac Society), 2015
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
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Cardiac and skeletal myopathy in Fabry disease: a clinicopathologic correlative study.
Chimenti C et al.
Human Pathology, 2012
Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy.
Biancini GB et al.
Biochimica Et Biophysica Acta, 2012