Associated Papers
Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation.
Wallraven T et al.
Npj Genomic Medicine, 2026
Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.
Guo W et al.
Journal of Advanced Research, 2026
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
Cardiac manifestations of Fabry disease: are women getting enough attention?
Côté MA et al.
Acta Cardiologica, 2025
Troponin rise in Fabry disease: an Australian perspective.
Kansal A et al.
Internal Medicine Journal, 2025
Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland.
Valtola K et al.
Esc Heart Failure, 2025
Proton Density of the Dorsal Root Ganglia in Classical Fabry Disease: MRI Correlates of Small Fibre Neuropathy.
Weiner S et al.
Biomedicines, 2025
Disrupted synaptic gene expression in Fabry disease: Findings from RNA sequencing.
López-Valverde L et al.
Neurobiology of Disease, 2025
Unveiling the characteristics of lobar-predominant cerebral microbleeds in Fabry disease.
Hsieh PF et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2025
Therapeutic effects of lomerizine on vasculopathy in Fabry disease.
Choi JB et al.
Scientific Reports, 2025
MRI T2 Mapping of Dorsal Root Ganglia Reveals Increased T2 Relaxation Time in Classical Fabry Disease.
Weiner S et al.
Biomedicines, 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
Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex.
Biddeci G et al.
Cells, 2025
Investigating undiagnosed Fabry disease in young adults with ischemic stroke: A multicenter cohort study.
Lin PY et al.
International Journal of Stroke : Official Journal of the International Stroke Society, 2025
Fabry disease phenotyping in women from the complete Romanian cohort - time for early diagnostic awareness.
Mursă A et al.
Romanian Journal of Internal Medicine = Revue Roumaine De Medecine Interne, 2024
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.
Yao F et al.
Human Genomics, 2024
Safety and Tolerability of a Shorter Agalsidase Beta Infusion Time in Patients with Classic or Later-Onset Fabry Disease.
Germain DP et al.
Biomedicines, 2024
Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies.
Borisch C et al.
Journal of Translational Medicine, 2024
2024 Update of the TSOC Expert Consensus of Fabry Disease.
Hung CL et al.
Acta Cardiologica Sinica, 2024
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers.
López-Valverde L et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2024
The Effect of Fabry Disease Therapy on Bone Mineral Density.
Aitken T et al.
Diseases (basel, Switzerland), 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
Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women.
Faro DC et al.
Genes, 2023
Investigation of bone mineral density and the changes by enzyme replacement therapy in patients with Fabry disease.
Nose Y et al.
Molecular Genetics and Metabolism, 2023
Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease.
Gou P et al.
Frontiers in Pediatrics, 2023
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
Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.
Cybulla M et al.
Journal of Clinical Medicine, 2022
Fabry's Disease: The Utility of a Multidisciplinary Screening Approach.
Monte MA et al.
Life (basel, Switzerland), 2022
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
Germain DP et al.
Clinical Genetics, 2022
Divergent Impact of Enzyme Replacement Therapy on Human Cardiomyocytes and Enterocytes Affected by Fabry Disease: Correlation with Mannose-6-phosphate Receptor Expression.
Frustaci A et al.
Journal of Clinical Medicine, 2022
Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease.
Kim IY et al.
Kidney Research and Clinical Practice, 2021
X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay.
Rossanti R et al.
Clinical and Experimental Nephrology, 2021
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Parsing Fabry Disease Metabolic Plasticity Using Metabolomics.
Ducatez F et al.
Journal of Personalized Medicine, 2021
Human-induced pluripotent stem cells as models for rare cardiovascular diseases: from evidence-based medicine to precision medicine.
Pan Z et al.
Pflugers Archiv : European Journal of Physiology, 2021
2021 TSOC Expert Consensus on the Clinical Features, Diagnosis, and Clinical Management of Cardiac Manifestations of Fabry Disease.
Hung CL et al.
Acta Cardiologica Sinica, 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
Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease.
Rossi F et al.
High Blood Pressure & Cardiovascular Prevention : the Official Journal of the Italian Society of Hypertension, 2021
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
Goicoechea M et al.
Nefrologia, 2021
The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field.
Sorriento D et al.
International Journal of Molecular Sciences, 2021
Endothelial Dysfunction in Fabry Disease Is Related to Glycocalyx Degradation.
Pollmann S et al.
Frontiers in Immunology, 2021
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