Associated Papers
Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland.
Valtola K et al.
Esc Heart Failure, 2025
Visual outcome, ocular findings, and visual quality of life in patients with Fabry disease.
Nilsson M et al.
Ophthalmic Genetics, 2022
Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study.
Weidemann F et al.
Molecular Genetics and Metabolism, 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
Previously Unreported in Women Galactosidase Alpha Pro409Ser Variant Is Associated With Fabry Disease.
Luis SA et al.
Circulation. Cardiovascular Genetics, 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
The UK10K project identifies rare variants in health and disease.
Walter K et al.
Nature, 2015
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Pharmacological chaperone therapy for Fabry disease.
Ishii S
Proceedings of the Japan Academy. Series B, Physical and Biological Sciences, 2012
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
Wu X et al.
Human Mutation, 2011
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study.
Andreotti G et al.
Orphanet Journal of Rare Diseases, 2010
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.
Benjamin ER et al.
Journal of Inherited Metabolic Disease, 2009
Neuropathic symptoms and findings in women with Fabry disease.
Laaksonen SM et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2008
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E et al.
Human Mutation, 2005
Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.
Yang CC et al.
Clinical Genetics, 2003
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: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.
Shabbeer J et al.
Molecular Genetics and Metabolism, 2002
Fabry disease: 20 novel GLA mutations in 35 families.
Blaydon D et al.
Human Mutation, 2001