Associated Papers
Clinical characteristics of female Fabry disease patients with hypertrophic cardiomyopathy with mid-ventricular obstruction.
Inagaki N et al.
Molecular Genetics and Metabolism Reports, 2025
Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy.
Li L et al.
Frontiers in Genetics, 2025
Chronic Cough as the First Clinical Sign of Fabry Disease: A Case Report.
Muras-Szwedziak K et al.
Cureus, 2024
Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.
Savostyanov K et al.
Genes, 2023
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.
Hughes DA et al.
Journal of Medical Genetics, 2023
36543533 (PubMed )
Supplement: jmg-2022-108669supp001.pdf
Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease.
Modrego A et al.
International Journal of Molecular Sciences, 2021
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.
Germain DP et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction.
Inagaki N et al.
Journal of Human Genetics, 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 › Classic
Impact of cysteine variants on the structure, activity, and stability of recombinant human α-galactosidase A.
Qiu H et al.
Protein Science : a Publication of the Protein Society, 2015
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
Ferreira S et al.
Molecular Genetics and Metabolism, 2015
[Clinical manifestations and mutation study in 16 Chinese patients with Fabry disease].
Meng Y et al.
Zhonghua Yi Xue Za Zhi, 2010
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