Associated Papers
Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation.
Wallraven T et al.
Npj Genomic Medicine, 2026
An unusual trilogy: a case of comorbid aHUS, Fabry disease, and hypertrophic cardiomyopathy.
Li Q et al.
Frontiers in 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 tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice.
Alonso-González A et al.
European Journal of Human Genetics : Ejhg, 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
Proton Density of the Dorsal Root Ganglia in Classical Fabry Disease: MRI Correlates of Small Fibre Neuropathy.
Weiner S et al.
Biomedicines, 2025
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Disrupted synaptic gene expression in Fabry disease: Findings from RNA sequencing.
López-Valverde L et al.
Neurobiology of Disease, 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
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
Exome sequencing of a Portuguese cohort of early-onset Alzheimer's disease implicates the X-linked lysosomal gene GLA.
Tábuas-Pereira M et al.
Scientific Reports, 2025
MRI T2 Mapping of Dorsal Root Ganglia Reveals Increased T2 Relaxation Time in Classical Fabry Disease.
Weiner S et al.
Biomedicines, 2025
Sex Differences in Circulating Inflammatory, Immune, and Tissue Growth Markers Associated with Fabry Disease-Related Cardiomyopathy.
Ivanova MM et al.
Cells, 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
Further Clinical and Biochemical Phenotype of GLA p.A143T: A Fabry Disease Newborn Screening Experience.
Paltzer A et al.
Nephron, 2025
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
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
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
Cases of Fabry Disease in Which Pathogenic Variants Are Not Detected in Parent-Child Pairs.
Akeho N et al.
Cureus, 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
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
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
Circulated TGF-β1 and VEGF-A as Biomarkers for Fabry Disease-Associated Cardiomyopathy.
Ivanova MM et al.
Cells, 2023
[Multisystem lesions in orphan diseases: rheumatological aspects of Fabry's disease. Case report].
Mashkunova OV et al.
Terapevticheskii Arkhiv, 2023
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
Difficulties in Diagnosing Fabry Disease in Patients with Unexplained Left Ventricular Hypertrophy (LVH): Is the Novel GLA Gene Mutation a Pathogenic Mutation or Polymorphism?
Aladağ N et al.
Balkan Journal of Medical Genetics : Bjmg, 2023
Experimental evidence and clinical implications of Warburg effect in the skeletal muscle of Fabry disease.
Gambardella J et al.
Iscience, 2023
The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.
Sánchez R et al.
Orphanet Journal of Rare Diseases, 2023
Magnitude of the Potential Screening Gap for Fabry Disease in Manitoba: A Population-Based Retrospective Cohort Study.
Whitlock RH et al.
Canadian Journal of Kidney Health and Disease, 2023
Phenotyping of a novel COL4A4 and novel GLA variant in a patient presenting with microhematuria and mildly impaired kidney function: a case report.
Ponleitner M et al.
Frontiers in Genetics, 2023
Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic.
Zemánek D et al.
Esc Heart Failure, 2022
Biomarkers for Monitoring Renal Damage Due to Fabry Disease in Patients Treated with Migalastat: A Review for Nephrologists.
Jaurretche S et al.
Genes, 2022
Cognitive dysfunction and white matter hyperintensities in Fabry disease.
Murphy P et al.
Journal of Inherited Metabolic Disease, 2022
Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.
Jurickova K et al.
Journal of Personalized Medicine, 2022
Newborn screening for Fabry disease in Oregon: Approaching the iceberg of A143T and variants of uncertain significance.
Viall S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Treatment of Fabry Disease management with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS).
Lenders M et al.
European Heart Journal. Cardiovascular Pharmacotherapy, 2022
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
Germain DP et al.
Clinical Genetics, 2022