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
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 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
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
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
James KN et al.
Npj Genomic Medicine, 2020
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
Genetic variants associated with gastrointestinal symptoms in Fabry disease.
Di Martino MT et al.
Oncotarget, 2016
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
Genetic screening of Fabry patients with EcoTILLING and HRM technology.
Bono C et al.
Bmc Research Notes, 2011