Associated Papers
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.
Hughes DA et al.
Journal of Medical Genetics, 2023
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Effects of agalsidase-β administration on vascular function and blood pressure in familial Anderson-Fabry disease.
Stamerra CA et al.
European Journal of Human Genetics : Ejhg, 2021
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.
Germain DP et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 2019
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G et al.
International Journal of Molecular Sciences, 2018
Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies.
Thurberg BL et al.
Molecular Genetics and Metabolism Reports, 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
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R 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
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Alfares AA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.
Auray-Blais C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.
Andreotti G et al.
Orphanet Journal of Rare Diseases, 2011
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Structural characterization of mutant alpha-galactosidases causing Fabry disease.
Sugawara K et al.
Journal of Human Genetics, 2008
Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors.
Fan JQ et al.
The Febs Journal, 2007
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
Ishii S et al.
The Biochemical Journal, 2007
Therapeutic strategies to ameliorate lysosomal storage disorders--a focus on Gaucher disease.
Sawkar AR et al.
Cellular and Molecular Life Sciences : Cmls, 2006
Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes.
Matsuzawa F et al.
Human Genetics, 2005
[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects].
Germain DP
Journal De La Societe De Biologie, 2002