Associated Papers
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
The kidney in genetic metabolic disorders.
Schultheiss UT et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.v, 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
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
Urinary VEGF-A165b mRNA expression in Fabry disease: Pilot study.
Jaurretche S et al.
Nefrologia, 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
Therapeutic targeting of neuroinflammation in sphingolipidosis.
Ada E et al.
Molecular Immunology, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Functional and histopathologic correlation in the fabry nephropathy with N215S genotype.
Mignani R et al.
Orphanet Journal of Rare Diseases, 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
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
Impact of ER stress and the unfolded protein response on Fabry disease.
Lenders M et al.
Ebiomedicine, 2025
MRI T2 Mapping of Dorsal Root Ganglia Reveals Increased T2 Relaxation Time in Classical Fabry Disease.
Weiner S et al.
Biomedicines, 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
The Fabry Nephropathy in Patients with N215S Variant.
Mignani R et al.
Nephron, 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
Fabry disease in familial Mediterranean fever according to the severity of the disease.
Uslu S et al.
Reumatologia Clinica, 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
Plasma and platelet lipidome changes in Fabry disease.
Burla B et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
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
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
The Effect of Fabry Disease Therapy on Bone Mineral Density.
Aitken T et al.
Diseases (basel, Switzerland), 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
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
Genetic Diagnosis of Adult Hemodialysis Patients With Unknown Etiology.
Fujimaru T et al.
Kidney International Reports, 2024
Case report: enzyme replacement therapy for Fabry disease presenting with proteinuria and ventricular septal thickening.
Chen Z et al.
Bmc Nephrology, 2024
Overexpression of VEGFα as a biomarker of endothelial dysfunction in aortic tissue of α-GAL-Tg/KO mice and its upregulation in the serum of patients with Fabry's disease.
Lund N et al.
Frontiers in Cardiovascular Medicine, 2024
Late-onset renal variant Fabry disease with R112H mutation and mild increase in plasma globotriaosylsphingosine: a case report.
Tanaka K et al.
Frontiers in Medicine, 2024
8th Update on Fabry Disease: Biomarkers, Progression and Treatment Opportunities in 2024.
Unknown Author
Nephron, 2024
How Do Physical Activity and Exercise Affect Fabry Disease? Exploring a New Opportunity.
Baciga F et al.
Kidney & Blood Pressure Research, 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
A Case Report of Kidney After Heart Transplant in Patient With Fabry Disease.
Kyem G et al.
Transplantation Proceedings, 2023
Unexplained Left Ventricular Hypertrophy Diagnosed as a Cardiac Variant of Late-Onset Fabry Disease: A Case Report.
Zhao M et al.
Journal of Cardiovascular Development and Disease, 2023
Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification.
Keyzor I et al.
Biomolecules, 2023
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.
Hughes DA et al.
Journal of Medical Genetics, 2023
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy.
Braun F et al.
The Journal of Clinical Investigation, 2023
Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease.
Gatterer C et al.
Life (basel, Switzerland), 2023
Prevalence of Fabry disease-causing variants in the UK Biobank.
Gilchrist M et al.
Journal of Medical Genetics, 2023