Associated Papers
Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies.
Borisch C et al.
Journal of Translational Medicine, 2024
A new in silico approach to investigate molecular aspects of factor IX missense causative mutations and their impact on the hemophilia B severity.
Meireles MR et al.
Human Mutation, 2019
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
Ferri L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
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
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