Associated Papers
Staging of Fabry cardiomyopathy in clinical practice: an algorithm proposal.
Fortuna I et al.
International Journal of Cardiology. Heart & Vasculature, 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
Fabry disease cardiomyopathy: A practical guide for cardiologists.
Al Saleh T et al.
Current Problems in Cardiology, 2026
Newborn Screening in Fabry Disease.
Olszewska M et al.
International Journal of Molecular Sciences, 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
Cardiac Phenotypes in Fabry Disease: Genetic Variability and Clinical Severity Staging Correlation in a Reference Center Cohort.
Faro DC et al.
Genes, 2025
Unveiling Functional Impairment in Fabry Disease: The Role of Peripheral vs. Cardiac Mechanisms.
Halasz G et al.
Biomedicines, 2025
How to escape from sudden death: a challenging case of a rare cardiomyopathy with an unexpected twist.
Pinheiro L et al.
Monaldi Archives for Chest Disease = Archivio Monaldi Per Le Malattie Del Torace, 2025
Disrupted synaptic gene expression in Fabry disease: Findings from RNA sequencing.
López-Valverde L et al.
Neurobiology of Disease, 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
The contribution of genetics to the understanding and management of cardiomyopathies: Part 2.
Cardoso I et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Heart failure in two male patients with late-onset Fabry mutation (IVS4 + 919G > A).
Yang X et al.
Esc Heart Failure, 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
Anderson-Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies.
Tognola C et al.
Diagnostics (basel, Switzerland), 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
Case Report: Fabry disease overlapping with systemic lupus erythematosus in a pediatric patient.
Liu Y et al.
Frontiers in Immunology, 2025
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
Unambiguous Interpretation of the Pathogenicity of the GLA c.547+3A>G Variant Causing Fabry Disease.
Urtis M et al.
Genes, 2024
2024 Update of the TSOC Expert Consensus of Fabry Disease.
Hung CL et al.
Acta Cardiologica Sinica, 2024
The Asian Fabry Cardiomyopathy High-Risk Screening Study 2 (ASIAN-FAME-2): Prevalence of Fabry Disease in Patients with Left Ventricular Hypertrophy.
Leung SP et al.
Journal of Clinical Medicine, 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
Anderson-Fabry disease management: role of the cardiologist.
Pieroni M et al.
European Heart Journal, 2024
Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease.
Blanco R et al.
International Journal of Molecular Sciences, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
Sheth J et al.
Jimd Reports, 2024
Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry.
Romani I et al.
Journal of the Neurological Sciences, 2024
Reducing agalsidase beta infusion time in Fabry patients: low incidence of antibody formation and infusion-associated reactions in an Italian multicenter study.
Mignani R et al.
Orphanet Journal of Rare Diseases, 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
Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women.
Faro DC et al.
Genes, 2023
Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families.
Cianci V et al.
Metabolic Brain Disease, 2023
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
An expert consensus on the recommendations for the use of biomarkers in Fabry disease.
Burlina A et al.
Molecular Genetics and Metabolism, 2023
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
Anderson-Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease?
Zedde M et al.
Biomedicines, 2022
Beyond Sarcomeric Hypertrophic Cardiomyopathy: How to Diagnose and Manage Phenocopies.
Pieroni M et al.
Current Cardiology Reports, 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
COVID-19 in Fabry disease: a reference center prospective study.
Bothou C et al.
Orphanet Journal of Rare Diseases, 2022
Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.
Dai X et al.
Orphanet Journal of Rare Diseases, 2022
The Heart in Fabry Disease: Mechanisms Beyond Storage and Forthcoming Therapies.
Pieroni M et al.
Reviews in Cardiovascular 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
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease.
Nowak A et al.
Journal of Medical Genetics, 2022
Cochleovestibular involvement in patients with Fabry disease: data from the multicenter cohort FFABRY.
Asquier-Khati A et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2022
Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.
Mauhin W et al.
Journal of Clinical Medicine, 2022