Associated Papers
Genotype-Phenotype Spectrum of 52 Mexican Patients With Fabry Disease: A Novel GLA Variant With Atypical Phenotype.
Kimball TN et al.
Molecular Genetics & Genomic Medicine, 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
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
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
Determinants of cerebral radiological progression in Fabry disease.
Körver S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease.
Li P et al.
Frontiers in 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
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
Ferri L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study.
Arends M et al.
Journal of Inherited Metabolic Disease, 2018
Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now.
Beirão I et al.
Diseases (basel, Switzerland), 2017
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
Arends M et al.
Journal of the American Society of Nephrology : Jasn, 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
Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.
Arends M et al.
Plos One, 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
Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics.
Favalli V et al.
Journal of the American College of Cardiology, 2016
Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort.
Arends M et al.
Molecular Genetics and Metabolism, 2016
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
Lukas J et al.
Human Mutation, 2016
In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.
van der Tol L et al.
Jimd Reports, 2016
Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.
Smid BE et al.
Clinical Genetics, 2015
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.
Smid BE et al.
Journal of Medical Genetics, 2015
Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.
Niemann M et al.
Circulation. Cardiovascular Genetics, 2014
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain.
Rombach SM et al.
Orphanet Journal of Rare Diseases, 2013
Cost-effectiveness of enzyme replacement therapy for Fabry disease.
Rombach SM et al.
Orphanet Journal of Rare Diseases, 2013
Mutant α-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level.
Mitobe S et al.
Molecular Genetics and Metabolism, 2012
Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine.
Rombach SM et al.
Hypertension (dallas, Tex. : 1979), 2012
Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene.
Lukas J et al.
Clinical Kidney Journal, 2012
Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease.
Rombach SM et al.
Biochimica Et Biophysica Acta, 2010
The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.
Vedder AC et al.
Journal of Inherited Metabolic Disease, 2007
Progression of left ventricular mass is associated with clinical events in key subgroups of Fabry disease: Analyses from the Fabry Registry.
Moon JC et al.
Molecular Genetics and Metabolism, 0