Associated Papers
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Sawada T et al.
Molecular Genetics & Genomic Medicine, 2020
33016649 (PubMed )
Supplement: MGG3-8-e1502-s001.xlsx › Table_S1
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
32843101 (PubMed )
Supplement: 13023_2020_1494_MOESM3_ESM.xlsx › Table_2
Retrospective analysis of clinical phenotype and prognosis of hypertrophic cardiomyopathy complicated with hypertension.
Luo Q et al.
Scientific Reports, 2020
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
30497360 (PubMed )
Supplement: 12859_2018_2416_MOESM2_ESM.xlsx › ST2
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
27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Classic
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
27916943 (PubMed )
Supplement: ijms-17-02010-s001.zip › ijms-157565-supplementary_file_1_done.xlsx › Tabella_aggiornamento
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP et al.
The New England Journal of Medicine, 2016
27509102 (PubMed )
Supplement: nejmoa1510198_protocol.pdf
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).
Ebrahim HY et al.
Journal of Inherited Metabolic Disease, 2012
Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey.
Elliott P et al.
Heart (british Cardiac Society), 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
21138548 (PubMed )
Supplement: 1750-1172-5-36-S1.XLS › data
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
20629180 (PubMed )
Supplement: supplement_1.pdf
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
Shimotori M et al.
Human Mutation, 2008
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