Associated Papers
Parsing Fabry Disease Metabolic Plasticity Using Metabolomics.
Ducatez F et al.
Journal of Personalized Medicine, 2021
34575675 (PubMed )
Supplement: jpm-11-00898-s001.zip › Ducatez_et_al_supp_data_fabomics_20210731.xlsx › Table_S2
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Mauhin W et al.
Plos One, 2020
32442237 (PubMed )
Supplement: pone.0233460.s001.xlsx › Feuil1
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 2019
Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.
Lavalle L et al.
Plos One, 2018
29621274 (PubMed )
Supplement: pone.0193550.s004.pdf
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 › Unknown
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
Fabry disease: 20 novel GLA mutations in 35 families.
Blaydon D et al.
Human Mutation, 2001
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