Associated Papers
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 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
30497360 (PubMed )
Supplement: 12859_2018_2416_MOESM1_ESM.xlsx › ST1
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
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
20629180 (PubMed )
Supplement: supplement_1.pdf
Thrombosis in Japanese patients with Fabry disease.
Utsumi K et al.
Journal of the Neurological Sciences, 2009
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
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E et al.
Human Mutation, 2005
[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects].
Germain DP
Journal De La Societe De Biologie, 2002
High incidence of thrombosis in Fabry's disease.
Utsumi K et al.
Internal Medicine (tokyo, Japan), 1997
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