Associated Papers
Multidisciplinary approach to the assessment and management of children with Fabry disease: Insights from the Chinese Children Genetic Kidney Disease Database.
Wang J et al.
Intractable & Rare Diseases Research, 2026
Successful experience with high-risk and family screening for Fabry disease in Ninghai County, Zhejiang Province, Eastern China: genotype‒phenotype analysis of the GLA IVS4 + 919G > A variant.
Ge Z et al.
Bmc Medical Genomics, 2026
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
Genetic landscape of hereditary cardiomyopathies and arrhythmias in China.
Lu Y et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026
The role of quantitative cardiovascular MRI and late gadolinium enhancement patterns in differentiating late-onset Anderson-Fabry disease (c.640-801G > A) from hypertrophic cardiomyopathy: a case-control study.
Xu Y et al.
International Journal of Cardiology. Heart & Vasculature, 2026
A New Class of Pathogenic Non-Coding Variants in GLA.
Yuan Y et al.
International Journal of Molecular Sciences, 2026
Fabry disease cardiomyopathy: A practical guide for cardiologists.
Al Saleh T et al.
Current Problems in Cardiology, 2026
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.
Bylstra Y et al.
European Journal of Human Genetics : Ejhg, 2026
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
Case Report: Fabry disease presenting with electrocardiographic findings mimicking acute myocardial infarction: a diagnostic challenge.
Xie JM et al.
Frontiers in Cardiovascular Medicine, 2026
Newborn Screening in Fabry Disease.
Olszewska M et al.
International Journal of Molecular Sciences, 2025
Optimizing α-galactosidase A enzyme cutoff for Fabry disease screening in chronic kidney disease patients: a single-center reassessment of diagnostic yield and cost-effectiveness.
Tsai SF et al.
Renal Failure, 2025
Arrhythmias and clinical outcomes in Fabry disease with cardiac and renal involvement.
Yin X et al.
Orphanet Journal of Rare Diseases, 2025
Multimodality Imaging of a Woman With Hypertrophic Cardiomyopathy and Fabry Disease.
Ching S et al.
Echocardiography (mount Kisco, N.y.), 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
[Fabry disease during the last 20 years: Analysis of a cohort of 107 patients, and focus on the F113L variant].
Lidove O et al.
La Revue De Medecine Interne, 2025
Perspectives on newborn screening for Fabry disease based on mothers' experiences in Japan.
Sasaki N et al.
Journal of Genetic Counseling, 2025
Fabry Disease Associated With Myelodysplastic Syndrome: Case Report.
Zheng L et al.
Clinical Case Reports, 2025
Functional and histopathologic correlation in the fabry nephropathy with N215S genotype.
Mignani R et al.
Orphanet Journal of Rare Diseases, 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
Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).
Hopkin RJ et al.
Orphanet Journal of Rare Diseases, 2025
A multi-country time and motion study to describe the experience and burden associated with the treatment of Fabry disease with enzyme replacement therapy with agalsidase alfa and agalsidase beta.
Keyzor I et al.
Orphanet Journal of Rare Diseases, 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
Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review.
Jovanovic A et al.
Journal of Clinical Medicine, 2025
Comparative Evaluation of AAV8 and AAV9 Gene Therapy in Fabry Knockout (Gla-/y) and Symptomatic (G3STg/+Gla-/y) Murine Models.
Chang FP et al.
Genes, 2025
Late-onset fabry disease presenting with unexplained renal failure, left ventricular hypertrophy, and recurrent syncope: a case report.
Ying Q et al.
Orphanet Journal of Rare Diseases, 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
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Lee E et al.
Genes, 2025
Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China.
Wang X et al.
Genome Medicine, 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
Unveiling the characteristics of lobar-predominant cerebral microbleeds in Fabry disease.
Hsieh PF et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2025
Invention of an oral medication for cardiac Fabry disease caused by RNA mis-splicing.
Awaya T et al.
Science Advances, 2025
Heart failure in two male patients with late-onset Fabry mutation (IVS4 + 919G > A).
Yang X et al.
Esc Heart Failure, 2025
c.640-814T>C mutation in deep intronic region of alpha-galactosidase A gene is associated with Fabry disease via dominant-negative effect.
Zhang P et al.
Gene, 2025
Investigating undiagnosed Fabry disease in young adults with ischemic stroke: A multicenter cohort study.
Lin PY et al.
International Journal of Stroke : Official Journal of the International Stroke Society, 2025
Cardiac involvement in Fabry disease: Recent advances, unresolved issues, and unmet needs.
Pieroni M et al.
European Heart Journal Supplements : Journal of the European Society of Cardiology, 2025
Fabry Disease Podocytes Reveal Ferroptosis as a Potential Regulator of Cell Pathology.
Wise AF et al.
Kidney International Reports, 2025
Decreased trabecular bone score in patients affected by Fabry disease.
Varaldo E et al.
Journal of Endocrinological Investigation, 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
The Fabry Nephropathy in Patients with N215S Variant.
Mignani R et al.
Nephron, 2025
Role of Longitudinal Strain in the Evaluation of Contractile Dysfunction in Japanese Fabry Disease Patients.
Nojiri A et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2024
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
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.
Yao F et al.
Human Genomics, 2024
Ten-Year Clinical Progression in a Patient with Fabry Disease: A Longitudinal Study.
Chao CP et al.
Acta Cardiologica Sinica, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
2024 Update of the TSOC Expert Consensus of Fabry Disease.
Hung CL et al.
Acta Cardiologica Sinica, 2024