Associated Papers
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.
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
Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.
Savostyanov K et al.
Genes, 2023
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
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.
Nampoothiri S et al.
Jimd Reports, 2020
Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.
Lombardi S et al.
Rna Biology, 2020
Normal left-atrial structure and function despite concentric left-ventricular remodelling in a cohort of patients with Anderson-Fabry disease.
Putko BN et al.
European Heart Journal. Cardiovascular Imaging, 2015
Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative.
Sirrs S et al.
Molecular Genetics and Metabolism, 2010
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.
Auray-Blais C et al.
Molecular Genetics and Metabolism, 2008
The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.
Vedder AC et al.
Journal of Inherited Metabolic Disease, 2007
Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta.
Linthorst GE et al.
Kidney International, 2004
[Fabry disease: data from four families].
Slee PH et al.
Nederlands Tijdschrift Voor Geneeskunde, 2000
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
Eng CM et al.
Molecular Medicine (cambridge, Mass.), 1997
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