Associated Papers
Long-Term Cardiac Stability Despite Late Enzyme Replacement Therapy in Fabry Disease With Severe Renal Involvement.
Teixeira TB et al.
Jacc. Case Reports, 2026
Fabry Disease and Its Different Phenotypes.
Antunes MO et al.
Arquivos Brasileiros De Cardiologia, 2025
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
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
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
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
Lukas J et al.
International Journal of Molecular Sciences, 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
Hypermobile Ehlers-Danlos-like syndrome in Fabry disease.
Barbey F et al.
Clinical Genetics, 2019
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase.
Cimmaruta C et al.
Bmc Bioinformatics, 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 Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.
Citro V et al.
International Journal of Molecular Sciences, 2016
Fabry disease: a new approach for the screening of females in high-risk groups.
Pasqualim G et al.
Clinical Biochemistry, 2014
New mutations in the GLA gene in Brazilian families with Fabry disease.
Turaça LT et al.
Journal of Human Genetics, 2012