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
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Disrupted synaptic gene expression in Fabry disease: Findings from RNA sequencing.
López-Valverde L et al.
Neurobiology of Disease, 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
In Silico Modeling of Fabry Disease Pathophysiology for the Identification of Early Cellular Damage Biomarker Candidates.
Gervas-Arruga J et al.
International Journal of Molecular Sciences, 2024
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers.
López-Valverde L et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2024
Inflammatory and Cardiovascular Biomarkers to Monitor Fabry Disease Progression.
Alonso-Núñez A et al.
International Journal of Molecular Sciences, 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
Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease.
Gatterer C et al.
Life (basel, Switzerland), 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
Late-onset Fabry disease revealed by ventricular tachycardia: A case report.
Ditac G et al.
Heartrhythm Case Reports, 2022
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Parsing Fabry Disease Metabolic Plasticity Using Metabolomics.
Ducatez F et al.
Journal of Personalized Medicine, 2021
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
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.
Janin A et al.
Molecular Diagnosis & Therapy, 2021
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
Goicoechea M et al.
Nefrologia, 2021
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
Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort.
Nowak A et al.
Journal of Inherited Metabolic Disease, 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
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Mauhin W et al.
Plos One, 2020
Hypermobile Ehlers-Danlos-like syndrome in Fabry disease.
Barbey F et al.
Clinical Genetics, 2019
Galectin-3 and β-trace protein concentrations are higher in clinically unaffected patients with Fabry disease.
Hernández-Romero D et al.
Scientific Reports, 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
Fabry disease in the Spanish population: observational study with detection of 77 patients.
Vieitez I et al.
Orphanet Journal of Rare Diseases, 2018
Many Faces of Fabry's Cardiomyopathy.
Jain R et al.
Jacc. Cardiovascular Imaging, 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
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
Lukas J et al.
Human Mutation, 2016
[Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease].
Piraud M et al.
La Revue De Medecine Interne, 2010
[Contribution of genotyping in Fabry's disease].
Froissart R et al.
La Revue De Medecine Interne, 2010
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.
Monserrat L et al.
Journal of the American College of Cardiology, 2007
Detection of subclinical fabry disease in patients presenting with hypertrophic cardiomyopathy.
Ackerman MJ et al.
Journal of the American College of Cardiology, 2007
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
Goicoechea M et al.
Nefrologia, 0