Associated Papers
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Enhancing Fabry disease screening and diagnostic efficiency: Integration of enzyme, biomarker, and next-generation sequencing testing.
Pan Y et al.
Molecular Genetics and Metabolism, 2025
Unveiling the characteristics of lobar-predominant cerebral microbleeds in Fabry disease.
Hsieh PF et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2025
Safety and Tolerability of a Shorter Agalsidase Beta Infusion Time in Patients with Classic or Later-Onset Fabry Disease.
Germain DP et al.
Biomedicines, 2024
2024 Update of the TSOC Expert Consensus of Fabry Disease.
Hung CL et al.
Acta Cardiologica Sinica, 2024
Fabry Disease with Genetic Variants of Unknown Significance and Concomitant Immunoglobulin A Nephropathy.
Zhou H et al.
Kidney & Blood Pressure Research, 2024
Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPPet Study.
Laney DA et al.
Genetics in Medicine Open, 2024
Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.
Savostyanov K et al.
Genes, 2023
Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease.
Gou P et al.
Frontiers in Pediatrics, 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
Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Řeboun M et al.
American Journal of Medical Genetics. Part A, 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
Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease.
Kim IY et al.
Kidney Research and Clinical Practice, 2021
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
Parsing Fabry Disease Metabolic Plasticity Using Metabolomics.
Ducatez F et al.
Journal of Personalized Medicine, 2021
2021 TSOC Expert Consensus on the Clinical Features, Diagnosis, and Clinical Management of Cardiac Manifestations of Fabry Disease.
Hung CL et al.
Acta Cardiologica Sinica, 2021
Anderson-Fabry disease presenting with atrial fibrillation as earlier sign in a young patient: A case report.
Kim H et al.
World Journal of Clinical Cases, 2021
Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease.
Rossi F et al.
High Blood Pressure & Cardiovascular Prevention : the Official Journal of the Italian Society of Hypertension, 2021
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Sawada T et al.
Molecular Genetics & Genomic Medicine, 2020
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 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
Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.
Lombardi S et al.
Rna Biology, 2020
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Mauhin W et al.
Plos One, 2020
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 2019
Fabry disease revisited: Management and treatment recommendations for adult patients.
Ortiz A et al.
Molecular Genetics and Metabolism, 2018
Peripheral nerve involvement in Fabry's disease: Which investigations? A case series and review of the literature.
Franques J et al.
Revue Neurologique, 2017
Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.
Heo SH et al.
Journal of Medical Genetics, 2017
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.
Choi JH et al.
Medicine, 2017
Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes.
Kim JH et al.
Journal of Human Genetics, 2016
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
Lenders M et al.
Orphanet Journal of Rare Diseases, 2016
p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease.
Ozelsancak R et al.
The American Journal of Case Reports, 2016
Tandem mass spectrometry multiplex analysis of methylated and non-methylated urinary Gb3 isoforms in Fabry disease patients.
Abaoui M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Pan X et al.
Plos One, 2016
Identification of mutations in Colombian patients affected with Fabry disease.
Uribe A et al.
Gene, 2015
Ophthalmic experience over 10 years in an observational nationwide Danish cohort of Fabry patients with access to enzyme replacement.
Fledelius HC et al.
Acta Ophthalmologica, 2015
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
Intrafamilial phenotypic variability in four families with Anderson-Fabry disease.
Rigoldi M et al.
Clinical Genetics, 2014
Multiplex tandem mass spectrometry analysis of novel plasma lyso-Gb₃-related analogues in Fabry disease.
Boutin M et al.
Analytical Chemistry, 2014
Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.
Niemann M et al.
Circulation. Cardiovascular Genetics, 2014
A metabolomic study to identify new globotriaosylceramide-related biomarkers in the plasma of Fabry disease patients.
Manwaring V et al.
Analytical Chemistry, 2013
Multiplex analysis of novel urinary lyso-Gb3-related biomarkers for Fabry disease by tandem mass spectrometry.
Lavoie P et al.
Analytical Chemistry, 2013
Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics.
Auray-Blais C et al.
Analytical Chemistry, 2012
Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry.
Wilcox WR et al.
Molecular Genetics and Metabolism, 2012
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
Lee BH et al.
Journal of Human Genetics, 2010