Associated Papers
A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women.
Lenzini L et al.
Journal of Inherited Metabolic Disease, 2026
From Shoulder to Heart: Acute Shoulder Pain Leads to a Diagnosis of Fabry Disease.
Kalaria A et al.
Jacc. Case Reports, 2026
Two diseases presenting only as cardiac hypertrophy: differences between the late-onset Fabry disease cardiac variant and hypertrophic cardiomyopathy.
Lin L et al.
Bmc Cardiovascular Disorders, 2026
Physical Fitness and Physical Function in Patients With Fabry Disease: A Cross-Sectional Multicentre Study.
Vitturi N et al.
Journal of Cachexia, Sarcopenia and Muscle, 2026
Fabry Disease: A Focus on the Role of Oxidative Stress.
Rydzek J et al.
Antioxidants (basel, Switzerland), 2026
Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation.
Wallraven T et al.
Npj Genomic Medicine, 2026
Fabry disease cardiomyopathy: A practical guide for cardiologists.
Al Saleh T et al.
Current Problems in Cardiology, 2026
Zebra bodies recognition by artificial intelligence (ZEBRA): a computational tool for Fabry nephropathy.
Cazzaniga G et al.
Scientific Reports, 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
The gatekeeper images in hypertrophic cardiomyopathy: the role of native T1 mapping in Anderson-Fabry disease.
Testa M et al.
Monaldi Archives for Chest Disease = Archivio Monaldi Per Le Malattie Del Torace, 2025
Newborn Screening in Fabry Disease.
Olszewska M et al.
International Journal of Molecular Sciences, 2025
Impact of migalastat on cerebral outcomes in fabry disease - results from the prospective observational FAMOUS trial.
Choudhury M et al.
Neurological Research and Practice, 2025
Optimizing α-galactosidase A enzyme cutoff for Fabry disease screening in chronic kidney disease patients: a single-center reassessment of diagnostic yield and cost-effectiveness.
Tsai SF et al.
Renal Failure, 2025
Cardiac manifestations of Fabry disease: are women getting enough attention?
Côté MA et al.
Acta Cardiologica, 2025
Fabry Disease Presenting as End-Stage Hypertrophic Cardiomyopathy: Diagnostic Pitfalls and Lessons Learned.
da Nóbrega Borges JV et al.
Jacc. Case Reports, 2025
Clinical and Biochemical Characterization of Fabry Disease Associated GLA Gene Variants: Data From a Large Cohort of 469 Thousand Genotyped Subjects of the UK Biobank Database.
Giammanco A et al.
Journal of Inherited Metabolic Disease, 2025
Exosome-Based Proteomic Profiling for Biomarker Discovery in Pediatric Fabry Disease: Insights into Early Diagnosis Monitoring.
Lu Z et al.
Biomedicines, 2025
Fabry Disease Screening in Patients with Idiopathic HCM or LVH: Data from the Multicentric Nationwide F-CHECK Study.
Machado R et al.
Biomedicines, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
[Fabry disease during the last 20 years: Analysis of a cohort of 107 patients, and focus on the F113L variant].
Lidove O et al.
La Revue De Medecine Interne, 2025
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Johnston JJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Cardiac Phenotypes in Fabry Disease: Genetic Variability and Clinical Severity Staging Correlation in a Reference Center Cohort.
Faro DC et al.
Genes, 2025
Functional and histopathologic correlation in the fabry nephropathy with N215S genotype.
Mignani R et al.
Orphanet Journal of Rare Diseases, 2025
Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).
Hopkin RJ et al.
Orphanet Journal of Rare Diseases, 2025
Unveiling Functional Impairment in Fabry Disease: The Role of Peripheral vs. Cardiac Mechanisms.
Halasz G et al.
Biomedicines, 2025
Early Atrial Remodeling Drives Arrhythmia in Fabry Disease.
Roy A et al.
Circulation. Arrhythmia and Electrophysiology, 2025
Proton Density of the Dorsal Root Ganglia in Classical Fabry Disease: MRI Correlates of Small Fibre Neuropathy.
Weiner S et al.
Biomedicines, 2025
Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosis.
Palmyre A et al.
Orphanet Journal of Rare Diseases, 2025
Inner retinal hyper-reflective foci number correlates with flood-illumination adaptive optics ophthalmoscopy grading and systemic organ involvement in patients with Fabry disease.
Bacherini D et al.
Eye (london, England), 2025
Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon.
Viall S et al.
Molecular Genetics and Metabolism Reports, 2025
The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: A systematic literature review.
Ramaswami U et al.
Molecular Genetics and Metabolism, 2025
Real-world clinical outcomes in adult patients with Fabry disease: A 20-year retrospective observational cohort study from a single centre.
McCarron EP et al.
Molecular Genetics and Metabolism Reports, 2025
Enhancing Fabry disease screening and diagnostic efficiency: Integration of enzyme, biomarker, and next-generation sequencing testing.
Pan Y et al.
Molecular Genetics and Metabolism, 2025
Impact of ER stress and the unfolded protein response on Fabry disease.
Lenders M et al.
Ebiomedicine, 2025
Heart failure in two male patients with late-onset Fabry mutation (IVS4 + 919G > A).
Yang X et al.
Esc Heart Failure, 2025
Fabry Disease: Insights into Pathophysiology and Novel Therapeutic Strategies.
Thompson SE et al.
Biomedicines, 2025
Fabry Disease and Its Different Phenotypes.
Antunes MO et al.
Arquivos Brasileiros De Cardiologia, 2025
MRI T2 Mapping of Dorsal Root Ganglia Reveals Increased T2 Relaxation Time in Classical Fabry Disease.
Weiner S et al.
Biomedicines, 2025
Impact of enzyme replacement therapy and migalastat on disease progression in females with fabry disease.
Lenders M et al.
Orphanet Journal of Rare Diseases, 2025
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
Prevalence and Clinical Correlates of Cerebrovascular Alterations in Fabry Disease: A Cross-Sectional Study.
Di Natale D et al.
Brain Sciences, 2025
Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex.
Biddeci G et al.
Cells, 2025
Cardiac involvement in Fabry disease: Recent advances, unresolved issues, and unmet needs.
Pieroni M et al.
European Heart Journal Supplements : Journal of the European Society of Cardiology, 2025
Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry.
Hughes DA et al.
Journal of Inherited Metabolic Disease, 2025
Decreased trabecular bone score in patients affected by Fabry disease.
Varaldo E et al.
Journal of Endocrinological Investigation, 2025