Associated Papers
Ventricular arrhythmias and primary prevention of sudden cardiac death in Anderson-Fabry disease.
Piccolo S et al.
International Journal of Cardiology, 2024
Septal Myectomy in Patients with Hypertrophic Cardiomyopathy and Nonclassical Anderson-Fabry Disease.
Gurschenkov A et al.
Journal of Cardiovascular Development and Disease, 2024
Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.
Savostyanov K et al.
Genes, 2023
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
Chen T et al.
Jama Network Open, 2023
37656460 (PubMed )
Supplement: jamanetwopen-e2331162-s001.pdf
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
37441486 (PubMed )
Supplement: mmc1.pdf
The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.
Moiseev S et al.
Genes, 2022
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP et al.
Molecular Genetics & Genomic Medicine, 2021
33835733 (PubMed )
Supplement: MGG3-9-e1666-s001.docx
Fabry Disease and the Heart: A Comprehensive Review.
Azevedo O et al.
International Journal of Molecular Sciences, 2021
The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field.
Sorriento D et al.
International Journal of Molecular Sciences, 2021
Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework.
Cheng L et al.
International Journal of Genomics, 2020
Description of a New GLA Gene Variant in a Patient with Hypertrophic Cardiomyopathy. Is it Fabry Disease?
Bittencourt MI
Arquivos Brasileiros De Cardiologia, 2019
Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype.
Csányi B et al.
International Heart Journal, 2017
Fabry Disease and/or Hypertrophic Cardiomyopathy.
Anan R
International Heart Journal, 2017
Select a paper to view details