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
Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation.
Wallraven T et al.
Npj Genomic Medicine, 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
A case of cardiac involvement in Fabry disease caused by the p.D313Y variant of the GLA-gene.
Schnieder AL et al.
European Heart Journal. 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
Fabry Disease Screening in Patients with Idiopathic HCM or LVH: Data from the Multicentric Nationwide F-CHECK Study.
Machado R et al.
Biomedicines, 2025
Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.
Pascual A et al.
International Journal of Molecular Sciences, 2025
Cardiac Phenotypes in Fabry Disease: Genetic Variability and Clinical Severity Staging Correlation in a Reference Center Cohort.
Faro DC et al.
Genes, 2025
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease.
Boettcher T et al.
Neurology. Genetics, 2025
Genetic Insights into Hemiplegic Migraine: Whole Exome Sequencing Highlights Vascular Pathway Involvement via Association Analysis.
Molaee Z 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
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
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
Fabry disease in the haemodialysis population: outcome of a UK screening study (SoFAH).
Ng KP et al.
Bmc Nephrology, 2025
Potential Pathogenetic Role of the D313Y Mutation in the GLA Gene in Anderson Fabry Disease: Two Case Reports.
La Russa A et al.
International Journal of Molecular Sciences, 2025
Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.
Bui QM et al.
Future Cardiology, 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
A Kidney Transplant Recipient Treated With Migalastat for Fabry Disease for 33 Months.
Eleftheriadis T et al.
Experimental and Clinical Transplantation : Official Journal of the Middle East Society for Organ Transplantation, 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
Effects of Current Therapies on Disease Progression in Fabry Disease: A Narrative Review for Better Patient Management in Clinical Practice.
Mignani R et al.
Advances in Therapy, 2025
Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.
Angelini C et al.
European Journal of Pain (london, England), 2025
Volumetric MRI of dorsal root ganglia as a biomarker for disease progression and response to AAV treatment in a mouse model of Fabry disease.
Zhao F et al.
Plos One, 2025
Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy.
Li L et al.
Frontiers in Genetics, 2025
Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease.
Lenders M et al.
Orphanet Journal of Rare Diseases, 2024
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
[What is confirmed in the treatment of Fabry's disease?]
Lenders M et al.
Innere Medizin (heidelberg, Germany), 2024
Investigation of serum neurofilament light chain as a biomarker in Fabry disease.
Ponleitner M et al.
Scientific Reports, 2024
Fabry Disease: A Rare Mutation With Common Clinical Presentation.
Certal M et al.
Cureus, 2024
Prevalence of Fabry Disease in Patients on Dialysis in France.
Sens F 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
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
Cases of Fabry Disease in Which Pathogenic Variants Are Not Detected in Parent-Child Pairs.
Akeho N et al.
Cureus, 2024
Aseptic meningitis and Fabry disease.
Montardi C et al.
Annals of Clinical and Translational Neurology, 2024
Inflammatory and Cardiovascular Biomarkers to Monitor Fabry Disease Progression.
Alonso-Núñez A et al.
International Journal of Molecular Sciences, 2024
Incidence and risk factors for development of left ventricular hypertrophy in Fabry disease.
Monda E et al.
Heart (british Cardiac Society), 2024
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
The Diagnostic and Therapeutic Implications of Phenocopies and Mimics of Hypertrophic Cardiomyopathy.
Bakalakos A et al.
The Canadian Journal of Cardiology, 2024
Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.
Silva SME et al.
Cardiovascular Diagnosis and Therapy, 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
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024