Associated Papers
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
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1
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
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
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.
Shin SH et al.
Pharmacogenetics and Genomics, 2008
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
Shabbeer J et al.
Human Genomics, 2006
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J et al.
Human Mutation, 2005
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