Associated Papers
Impact of migalastat on cerebral outcomes in fabry disease - results from the prospective observational FAMOUS trial.
Choudhury M et al.
Neurological Research and Practice, 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
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
Dorsal root ganglion magnetic resonance imaging biomarker correlations with pain in Fabry disease.
Schindehütte M et al.
Brain Communications, 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
X-chromosomal inactivation patterns in women with Fabry disease.
Wagenhäuser L et al.
Molecular Genetics & Genomic Medicine, 2022
Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.
Cybulla M et al.
Journal of Clinical Medicine, 2022
Treatment of Fabry Disease management with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS).
Lenders M et al.
European Heart Journal. Cardiovascular Pharmacotherapy, 2022
Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.
Reková P et al.
Journal of Clinical Medicine, 2021
Usefulness of Alcohol Septal Ablation in the Left Ventricular Outflow Tract Obstruction in Fabry Disease Cardiomyopathy.
Zemánek D et al.
The American Journal of Cardiology, 2021
Nationwide screening for Fabry disease in unselected stroke patients.
Tomek A et al.
Plos One, 2021
Stratification of Fabry mutations in clinical practice: a closer look at α-galactosidase A-3D structure.
Rickert V et al.
Journal of Internal Medicine, 2020
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
Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS).
Lenders M et al.
Clinical Pharmacology and Therapeutics, 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
Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year.
Müntze J et al.
Clinical Pharmacology and Therapeutics, 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
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
Arends M et al.
Journal of the American Society of Nephrology : Jasn, 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
Usefulness of an Implantable Loop Recorder to Detect Clinically Relevant Arrhythmias in Patients With Advanced Fabry Cardiomyopathy.
Weidemann F et al.
The American Journal of Cardiology, 2016
Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.
Niemann M et al.
Circulation. Cardiovascular Genetics, 2014
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
Lukas J et al.
Plos Genetics, 2013