Associated Papers
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosis.
Palmyre A et al.
Orphanet Journal of Rare Diseases, 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
Aseptic meningitis and Fabry disease.
Montardi C et al.
Annals of Clinical and Translational Neurology, 2024
How Do Physical Activity and Exercise Affect Fabry Disease? Exploring a New Opportunity.
Baciga F et al.
Kidney & Blood Pressure Research, 2024
Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysis.
Linares D et al.
Molecular Genetics and Metabolism, 2023
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
Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease.
Nakamura K et al.
Molecular Genetics and Metabolism Reports, 2023
Experimental evidence and clinical implications of Warburg effect in the skeletal muscle of Fabry disease.
Gambardella J et al.
Iscience, 2023
Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Řeboun M et al.
American Journal of Medical Genetics. Part A, 2022
COVID-19 in Fabry disease: a reference center prospective study.
Bothou C et al.
Orphanet Journal of Rare Diseases, 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
Clinical and genetic spectrum in Chinese families with Fabry disease: a single-centre case series.
Chen X et al.
Esc Heart Failure, 2021
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 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
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 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
Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019.
Capuano I et al.
Journal of Nephrology, 2020
Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients.
Kritzer A et al.
Molecular Genetics and Metabolism Reports, 2019
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.
Germain DP et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene.
Hossain MA et al.
Molecular Genetics and Metabolism Reports, 2019
Fabry disease in a Japanese population-molecular and biochemical characteristics.
Sakuraba H et al.
Molecular Genetics and Metabolism Reports, 2018
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.
Wilcox WR et al.
Jimd Reports, 2018
Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.
Lavalle L et al.
Plos One, 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
Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry.
Hopkin RJ et al.
Molecular Genetics and Metabolism, 2016
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry.
Ortiz A et al.
Journal of Medical Genetics, 2016
Clinical and genetic predictors of major cardiac events in patients with Anderson-Fabry Disease.
Patel V et al.
Heart (british Cardiac Society), 2015
Fabry disease in infancy and early childhood: a systematic literature review.
Laney DA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.
Wijburg FA et al.
Plos One, 2015
Multiplex tandem mass spectrometry analysis of novel plasma lyso-Gb₃-related analogues in Fabry disease.
Boutin M et al.
Analytical Chemistry, 2014
The coincidence of IgA nephropathy and Fabry disease.
Maixnerová D et al.
Bmc Nephrology, 2013
Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry.
Wilcox WR et al.
Molecular Genetics and Metabolism, 2012
Safety of agalsidase alfa in patients with Fabry disease under 7 years.
Ramaswami U et al.
Acta Paediatrica (oslo, Norway : 1992), 2011
Fabry disease in children: correlation between ocular manifestations, genotype and systemic clinical severity.
Allen LE et al.
The British Journal of Ophthalmology, 2010
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry.
Ortiz A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010
Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease.
Lubanda JC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009
Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy.
Mignani R et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.
Auray-Blais C et al.
Molecular Genetics and Metabolism, 2008
A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.
Merta M et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2007
High incidence of later-onset fabry disease revealed by newborn screening.
Spada M et al.
American Journal of Human Genetics, 2006
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.
Dobrovolny R et al.
Journal of Molecular Medicine (berlin, Germany), 2005
Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: a pilot study.
Mignani R et al.
Kidney International, 2004
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.
Shabbeer J et al.
Molecular Genetics and Metabolism, 2002
[Molecular genetics of Fabry disease].
Sakuraba H
Seikagaku. the Journal of Japanese Biochemical Society, 1989