Associated Papers
Cardiac Phenotypes in Fabry Disease: Genetic Variability and Clinical Severity Staging Correlation in a Reference Center Cohort.
Faro DC et al.
Genes, 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
Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex.
Biddeci G et al.
Cells, 2025
Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry.
Hughes DA et al.
Journal of Inherited Metabolic Disease, 2025
Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women.
Faro DC et al.
Genes, 2023
X-chromosomal inactivation patterns in women with Fabry disease.
Wagenhäuser L et al.
Molecular Genetics & Genomic Medicine, 2022
Fabry's Disease: The Utility of a Multidisciplinary Screening Approach.
Monte MA et al.
Life (basel, Switzerland), 2022
The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field.
Sorriento D et al.
International Journal of Molecular Sciences, 2021
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
A Cardiac Variant of Fabry Disease Diagnosed with Chance Urinary Mulberry Cells.
Onishi R et al.
Internal Medicine (tokyo, Japan), 2018
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
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G et al.
International Journal of Molecular Sciences, 2018
Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs.
Colomba P et al.
Oncotarget, 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
Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.
Niemann M et al.
Circulation. Cardiovascular Genetics, 2014
Genetic screening of Fabry patients with EcoTILLING and HRM technology.
Bono C et al.
Bmc Research Notes, 2011