Associated Papers
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
Gene Panel Approach to Screen for Hereditary Cerebral Small Vessel Disease: A Proof-of-Concept Study.
Ferraro C et al.
Genes, 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
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
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
Fabry Disease Screening in Patients with Idiopathic HCM or LVH: Data from the Multicentric Nationwide F-CHECK Study.
Machado R et al.
Biomedicines, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland.
Valtola K et al.
Esc Heart Failure, 2025
Cardiac Phenotypes in Fabry Disease: Genetic Variability and Clinical Severity Staging Correlation in a Reference Center Cohort.
Faro DC et al.
Genes, 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
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
Correlation of enzyme activities and genotype with clinical manifestations in Chinese patients of different sexes with classical and late-onset Fabry disease.
Guo W et al.
Frontiers of Medicine, 2025
Czech nationwide screening for Fabry disease in patients on maintenance dialysis: a call for evaluation of population-enriched GLA gene variants of uncertain significance.
Rychlík I et al.
Clinical Kidney Journal, 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
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
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 Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex.
Biddeci G et al.
Cells, 2025
Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project.
Scarcella M et al.
Molecular Genetics and Metabolism, 2025
Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.
Anania M et al.
International Journal of Molecular Sciences, 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
Lysosomal Storage-Independent Fabry Disease Variants with α-Galactosidase A Misprocessing-Induced ER Stress and the Unfolded Protein Response.
Živná M et al.
Nephron, 2025
Further Clinical and Biochemical Phenotype of GLA p.A143T: A Fabry Disease Newborn Screening Experience.
Paltzer A et al.
Nephron, 2025
Recent Advances in Understanding the Pathophysiology of Fabry Disease.
Warnock DG et al.
Nephron, 2025
Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease.
Lenders M et al.
Orphanet Journal of Rare Diseases, 2024
[What is confirmed in the treatment of Fabry's disease?]
Lenders M et al.
Innere Medizin (heidelberg, Germany), 2024
Screening for Fabry Disease-Related Mutations Among 829 Kidney Transplant Recipients.
Kljajic M et al.
Journal of Clinical Medicine, 2024
Investigation of serum neurofilament light chain as a biomarker in Fabry disease.
Ponleitner M et al.
Scientific Reports, 2024
Septal Myectomy in Patients with Hypertrophic Cardiomyopathy and Nonclassical Anderson-Fabry Disease.
Gurschenkov A et al.
Journal of Cardiovascular Development and Disease, 2024
Prevalence of Fabry Disease in Patients on Dialysis in France.
Sens F et al.
International Journal of Molecular Sciences, 2024
Establishing Treatment Effectiveness in Fabry Disease: Observation-Based Recommendations for Improvement.
Veldman BCF et al.
International Journal of Molecular Sciences, 2024
2024 Update of the TSOC Expert Consensus of Fabry Disease.
Hung CL et al.
Acta Cardiologica Sinica, 2024
Fabry disease Enzyme Enhancement on migalastat Study: FEES.
Kugan M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Experience with cascade screening: A comprehensive family pedigree analysis of two index patients with Fabry disease.
Kisa PT et al.
American Journal of Medical Genetics. Part A, 2024
Genetic variants of unknown significance in alpha-galactosidase A: Cellular delineation from Fabry disease.
Klein A et al.
Journal of Inherited Metabolic Disease, 2024
Incidence and risk factors for development of left ventricular hypertrophy in Fabry disease.
Monda E et al.
Heart (british Cardiac Society), 2024
The Effect of Fabry Disease Therapy on Bone Mineral Density.
Aitken T et al.
Diseases (basel, Switzerland), 2024
Anderson-Fabry disease management: role of the cardiologist.
Pieroni M et al.
European Heart Journal, 2024
Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study.
Haninger-Vacariu N et al.
Orphanet Journal of Rare Diseases, 2024
A Systematic Review on Safety and Efficacy of Migalastat for the treatment of Fabry's Disease.
Majid H et al.
Expert Opinion on Pharmacotherapy, 2024
In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease.
Breyer M et al.
Molecular Genetics and Metabolism Reports, 2024