Associated Papers
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
Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry Nephropathy.
Grimaldi A et al.
International Journal of Molecular Sciences, 2025
Newborn Screening in Fabry Disease.
Olszewska M et al.
International Journal of Molecular Sciences, 2025
Exosome-Based Proteomic Profiling for Biomarker Discovery in Pediatric Fabry Disease: Insights into Early Diagnosis Monitoring.
Lu Z et al.
Biomedicines, 2025
Epigenetic Mechanisms in Fabry Disease: A Thematic Analysis Linking Differential Methylation Profiles and Genetic Modifiers to Disease Phenotype.
Singh J et al.
Current Issues in Molecular Biology, 2025
Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysis.
Sawada T et al.
Molecular Genetics and Metabolism Reports, 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 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
Bioinformatics-Driven Multi-Factorial Insight into α-Galactosidase Mutations.
Hay Mele B et al.
International Journal of Molecular Sciences, 2025
Proton Density of the Dorsal Root Ganglia in Classical Fabry Disease: MRI Correlates of Small Fibre Neuropathy.
Weiner S et al.
Biomedicines, 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
MRI T2 Mapping of Dorsal Root Ganglia Reveals Increased T2 Relaxation Time in Classical Fabry Disease.
Weiner S et al.
Biomedicines, 2025
Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Stiles AR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Cryo-ablation management of atrial fibrillation in Fabry disease without agalsidase alpha: a case report.
Li Y et al.
Frontiers in Cardiovascular Medicine, 2025
Case Report: Fabry disease overlapping with systemic lupus erythematosus in a pediatric patient.
Liu Y et al.
Frontiers in Immunology, 2025
Validation of the NovaSeq6000 platform and automated library preparation for CE-IVD equivalence.
Pasquinelli E et al.
Computational and Structural Biotechnology Journal, 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
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
Coexistence of Fabry Disease and Membranous Nephropathy: A Case Report.
Jin Y et al.
Iranian Journal of Kidney Diseases, 2024
Newborn Screening for 6 Lysosomal Storage Disorders in China.
Chang S et al.
Jama Network Open, 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
How Do Physical Activity and Exercise Affect Fabry Disease? Exploring a New Opportunity.
Baciga F et al.
Kidney & Blood Pressure Research, 2024
Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPPet Study.
Laney DA et al.
Genetics in Medicine Open, 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
Phenotypes of undiagnosed adults with actionable OTC and GLA variants.
Gold JI et al.
Hgg Advances, 2023
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
Chen T et al.
Jama Network Open, 2023
Low skeletal muscle mass as an early sign in children with fabry disease.
Lu Z et al.
Orphanet Journal of Rare Diseases, 2023
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
Prevalence of Fabry disease-causing variants in the UK Biobank.
Gilchrist M et al.
Journal of Medical Genetics, 2023
Dysregulated DNA methylation in the pathogenesis of Fabry disease.
Shen JS et al.
Molecular Genetics and Metabolism Reports, 2022
Cognitive dysfunction and white matter hyperintensities in Fabry disease.
Murphy P et al.
Journal of Inherited Metabolic Disease, 2022
A novel unbiased method reveals progressive podocyte globotriaosylceramide accumulation and loss with age in females with Fabry disease.
Najafian B et al.
Kidney International, 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 30-year Natural History of Non-classic Fabry Disease with an R112H Mutation.
Muto R et al.
Internal Medicine (tokyo, Japan), 2022
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
van der Schoot V et al.
European Journal of Human Genetics : Ejhg, 2022
Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.
Muntean C et al.
Frontiers in Pediatrics, 2022
Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China.
Shen Q et al.
Orphanet Journal of Rare Diseases, 2021
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV et al.
Bmc Medicine, 2021
First 2 Fabry Cases with Novel Mutation and Their Associated Clusters in Malaysia.
Tang ASO et al.
The American Journal of Case Reports, 2021