Associated Papers
Real-world clinical outcomes in adult patients with Fabry disease: A 20-year retrospective observational cohort study from a single centre.
McCarron EP et al.
Molecular Genetics and Metabolism Reports, 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
Atypical Subendocardial Late Gadolinium Enhancement in Anderson-Fabry Cardiomyopathy.
Ditaranto R et al.
Circulation. Cardiovascular Imaging, 2024
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
Monda E et al.
Circulation. Genomic and Precision Medicine, 2023
Prevalence of Fabry disease-causing variants in the UK Biobank.
Gilchrist M et al.
Journal of Medical Genetics, 2023
Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.
Cybulla M et al.
Journal of Clinical Medicine, 2022
Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.
Effraimidis G et al.
Plos One, 2022
Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort.
Effraimidis G et al.
Journal of Medical Genetics, 2021
Fabry Disease and the Heart: A Comprehensive Review.
Azevedo O et al.
International Journal of Molecular Sciences, 2021
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
Germain DP et al.
Journal of Medical Genetics, 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
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Mauhin W et al.
Plos One, 2020
Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study.
Weidemann F et al.
Molecular Genetics and Metabolism, 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
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.
Mauhin W et al.
Orphanet Journal of Rare Diseases, 2018
Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan.
Liao HC et al.
Molecular Genetics and Metabolism, 2018
Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.
Adalsteinsdottir B et al.
Circulation. Cardiovascular Genetics, 2017
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
Positron Emission Tomography and Magnetic Resonance Imaging of the Brain in Fabry Disease: A Nationwide, Long-Time, Prospective Follow-Up.
Korsholm K et al.
Plos One, 2015
Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation.
Adalsteinsdottir B et al.
Circulation, 2014
High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry.
Lee SH et al.
Molecular Genetics and Metabolism, 2014
The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots.
Tai CL et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
Respiratory impairments in patients suffering from Fabry disease - A cross-sectional study.
Ahmed H et al.
Chronic Respiratory Disease, 0