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
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
How Do Physical Activity and Exercise Affect Fabry Disease? Exploring a New Opportunity.
Baciga F et al.
Kidney & Blood Pressure Research, 2024
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
38047356 (PubMed )
Supplement: circgenetics_circcvg-2023-004252-t_supp1.pdf
[A child of Fabry disease with appendicitis as initial symptom and family screening].
Lu ZH et al.
Zhonghua Nei Ke Za Zhi, 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
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
Altered pupillary light responses are associated with the severity of autonomic symptoms in patients with Fabry disease.
Bitirgen G et al.
Scientific Reports, 2021
Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis.
Battaglia Y et al.
Frontiers in Medicine, 2021
Corneal confocal microscopy detects corneal nerve damage and increased dendritic cells in Fabry disease.
Bitirgen G et al.
Scientific Reports, 2018
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
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