Associated Papers
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
Exosome-Based Proteomic Profiling for Biomarker Discovery in Pediatric Fabry Disease: Insights into Early Diagnosis Monitoring.
Lu Z et al.
Biomedicines, 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
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
Cryo-ablation management of atrial fibrillation in Fabry disease without agalsidase alpha: a case report.
Li Y et al.
Frontiers in Cardiovascular Medicine, 2025
Safety and Tolerability of a Shorter Agalsidase Beta Infusion Time in Patients with Classic or Later-Onset Fabry Disease.
Germain DP et al.
Biomedicines, 2024
Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China.
Sun Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
Circulated TGF-β1 and VEGF-A as Biomarkers for Fabry Disease-Associated Cardiomyopathy.
Ivanova MM et al.
Cells, 2023
Low skeletal muscle mass as an early sign in children with fabry disease.
Lu Z et al.
Orphanet Journal of Rare Diseases, 2023
Could immune cells be associated with nephropathy in Fabry disease patients?
Turkmen K et al.
International Urology and Nephrology, 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
The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.
Moiseev S et al.
Genes, 2022
X-chromosomal inactivation patterns in women with Fabry disease.
Wagenhäuser L et al.
Molecular Genetics & Genomic Medicine, 2022
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP et al.
Molecular Genetics & Genomic Medicine, 2021
Altered pupillary light responses are associated with the severity of autonomic symptoms in patients with Fabry disease.
Bitirgen G et al.
Scientific Reports, 2021
Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy.
Dutra-Clarke M et al.
Molecular Genetics and Metabolism Reports, 2021
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Sawada T et al.
Molecular Genetics & Genomic Medicine, 2020
Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy.
Hongo K et al.
Molecular Genetics and Metabolism Reports, 2020
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
Germain DP et al.
Journal of Medical Genetics, 2020
Newborn screening for Fabry disease in the western region of Japan.
Sawada T et al.
Molecular Genetics and Metabolism Reports, 2020
High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations.
Nakagawa N et al.
Journal of Human Genetics, 2019
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 2019
Fabry disease in a Japanese population-molecular and biochemical characteristics.
Sakuraba H et al.
Molecular Genetics and Metabolism Reports, 2018
Corneal confocal microscopy detects corneal nerve damage and increased dendritic cells in Fabry disease.
Bitirgen G et al.
Scientific Reports, 2018
Cardiac Phenotype of Prehypertrophic Fabry Disease.
Nordin S et al.
Circulation. Cardiovascular Imaging, 2018
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Benjamin ER et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study.
Turkmen K et al.
Kidney & Blood Pressure Research, 2016
Identification of mutations in Colombian patients affected with Fabry disease.
Uribe A et al.
Gene, 2015
Reduced glucosylceramide in the mouse model of Fabry disease: correction by successful enzyme replacement therapy.
Quinta R et al.
Gene, 2014
Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.
Monserrat L et al.
Journal of the American College of Cardiology, 2007
Detection of subclinical fabry disease in patients presenting with hypertrophic cardiomyopathy.
Ackerman MJ et al.
Journal of the American College of Cardiology, 2007
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J et al.
Human Mutation, 2005
[Molecular genetics of Fabry disease].
Sakuraba H
Seikagaku. the Journal of Japanese Biochemical Society, 1989