Associated Papers
Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland.
Valtola K et al.
Esc Heart Failure, 2025
Investigation of bone mineral density and the changes by enzyme replacement therapy in patients with Fabry disease.
Nose Y et al.
Molecular Genetics and Metabolism, 2023
X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay.
Rossanti R et al.
Clinical and Experimental Nephrology, 2021
Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.
Maruyama H et al.
Current Issues in Molecular Biology, 2021
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
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
Brain MRI findings in children and adolescents with Fabry disease.
Marchesoni C et al.
Journal of the Neurological Sciences, 2018
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
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
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
A successful approach for the detection of Fabry patients in Argentina.
Rozenfeld PA et al.
Clinical Genetics, 2006
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.
Dobrovolny R et al.
Journal of Molecular Medicine (berlin, Germany), 2005
Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
Germain DP et al.
Molecular Medicine (cambridge, Mass.), 2002
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
Immunofluorescence detection of globotriaosylceramide deposits in conjunctival biopsies of Fabry disease patients.
Rozenfeld PA et al.
Clinical & Experimental Ophthalmology, 0