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
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Lee E et al.
Genes, 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
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
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
Inflammatory and Cardiovascular Biomarkers to Monitor Fabry Disease Progression.
Alonso-Núñez A et al.
International Journal of Molecular Sciences, 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
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
The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.
Sánchez R et al.
Orphanet Journal of Rare Diseases, 2023
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease.
Nowak A et al.
Journal of Medical Genetics, 2022
Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.
Muntean C et al.
Frontiers in Pediatrics, 2022
Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing.
Delarosa-Rodríguez R et al.
Clinical Genetics, 2021
Fabry Disease p.M290I Mutation is Related to Organ Involvement: A Case Report.
Silva F et al.
Cureus, 2021
Genetics of renovascular hypertension in children.
Viering DHHM et al.
Journal of Hypertension, 2020
Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?
Azevedo O et al.
American Heart Journal, 2020
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
Sanders KA et al.
International Journal of Neonatal Screening, 2020
Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort.
Nowak A et al.
Journal of Inherited Metabolic Disease, 2020
Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype.
Azevedo O et al.
Molecular Genetics and Metabolism, 2020
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
Varela P et al.
Orphanet Journal of Rare Diseases, 2020
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
Inner ear involvement in Fabry disease: Clinical and audiometric evaluation of a large cohort of patients followed in a reference centre.
Rodrigues J et al.
European Journal of Medical Genetics, 2018
Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017.
Doheny D et al.
Journal of Medical Genetics, 2018
Simple and efficient screening of patients with Fabry disease with high resolution melting.
Pasqualim G et al.
Clinical Biochemistry, 2018
Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy.
Franzen D et al.
Bmj Open Respiratory Research, 2018
Newborn screening for Fabry disease in the north-west of Spain.
Colon C et al.
European Journal of Pediatrics, 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
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
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Pan X et al.
Plos One, 2016
Reduced glucosylceramide in the mouse model of Fabry disease: correction by successful enzyme replacement therapy.
Quinta R et al.
Gene, 2014
α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.
Siekierska A et al.
The Journal of Biological Chemistry, 2012
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
Shabbeer J et al.
Human Genomics, 2006
Epidemiology of Fabry disease in patients in hemodialysis in the Madrid community.
Corchete Prats E et al.
Nefrologia, 0
Genetic and phenotypic profile of Fabry disease in the population of Vale do Paraiba and Eastern São Paulo.
Paz OTD et al.
Jornal Brasileiro De Nefrologia, 0
Fabry disease cardiomyopathy: A state-of-the-art review.
Pande S et al.
Progress in Cardiovascular Diseases, 0