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
Increased Serum Interleukin-6 and Tumor Necrosis Factor Alpha Levels in Fabry Disease: Correlation with Disease Burden.
Rosa Neto NS et al.
Clinics (sao Paulo, Brazil), 2021
Fabry disease presenting as bilateral medial medullary infarction with a "heart appearance" sign: a case report.
Jiang S et al.
Bmc Neurology, 2020
Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients.
Rosa Neto NS et al.
Molecular Genetics and Metabolism Reports, 2020
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
Varela P et al.
Orphanet Journal of Rare Diseases, 2020
Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients.
Rosa Neto NS et al.
Advances in Rheumatology (london, England), 2020
Monogenic mimics of Behçet's disease in the young.
Papadopoulou C et al.
Rheumatology (oxford, England), 2019
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
27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Unknown
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
20629180 (PubMed )
Supplement: supplement_1.pdf
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