Associated Papers
Fabry Disease Screening in Patients with Idiopathic HCM or LVH: Data from the Multicentric Nationwide F-CHECK Study.
Machado R et al.
Biomedicines, 2025
Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland.
Valtola K et al.
Esc Heart Failure, 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
Anderson-Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies.
Tognola C et al.
Diagnostics (basel, Switzerland), 2025
Fabry disease phenotyping in women from the complete Romanian cohort - time for early diagnostic awareness.
Mursă A et al.
Romanian Journal of Internal Medicine = Revue Roumaine De Medecine Interne, 2024
The Asian Fabry Cardiomyopathy High-Risk Screening Study 2 (ASIAN-FAME-2): Prevalence of Fabry Disease in Patients with Left Ventricular Hypertrophy.
Leung SP et al.
Journal of Clinical Medicine, 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
Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.
Savostyanov K et al.
Genes, 2023
Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation.
Valtola K et al.
Open Heart, 2023
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis.
Battaglia Y et al.
Frontiers in Medicine, 2021
Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature.
Lee TH et al.
European Journal of Neurology, 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
Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.
Lu YH et al.
Journal of Human Genetics, 2018
Results of Fabry Disease Screening in Male Pre-End Stage Renal Disease Patients with Unknown Etiology Found Through the Platform of a Chronic Kidney Disease Education Program in a Northern Taiwan Medical Center.
Lin CJ et al.
Kidney & Blood Pressure Research, 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
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
Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features.
Ranieri M et al.
Current Treatment Options in Neurology, 2016
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
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.
Chien YH et al.
Molecular Medicine (cambridge, Mass.), 2012
Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).
Ebrahim HY et al.
Journal of Inherited Metabolic Disease, 2012
Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey.
Elliott P et al.
Heart (british Cardiac Society), 2011
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.
Andreotti G et al.
Orphanet Journal of Rare Diseases, 2011
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
High incidence of later-onset fabry disease revealed by newborn screening.
Spada M et al.
American Journal of Human Genetics, 2006
Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.
Yang CC et al.
Clinical Genetics, 2003
The heart in Fabry's disease.
Sheppard MN
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0