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
Prevalence and Clinical Correlates of Cerebrovascular Alterations in Fabry Disease: A Cross-Sectional Study.
Di Natale D et al.
Brain Sciences, 2025
40002499 (PubMed )
Supplement: brainsci-15-00166-s001.zip › brainsci-3430399-supplementary › Supplementary_table_S1.pdf
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.
Yao F et al.
Human Genomics, 2024
39609713 (PubMed )
Supplement: 40246_2024_697_MOESM1_ESM.xlsx › Table_S1_ACMG
Fabry Disease with Aseptic Meningitis: A Case Series and Literature Review of an Underestimated Clinical Presentation.
Tang MY et al.
Current Medical Science, 2022
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