Associated Papers
Lectin-Based Substrate Detection in Fabry Disease Using the Gb3-Binding Lectins StxB and LecA.
Elçin-Guinot S et al.
International Journal of Molecular Sciences, 2025
All reported non-canonical splice site variants in GLA cause aberrant splicing.
Okada E et al.
Clinical and Experimental Nephrology, 2023
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G et al.
International Journal of Molecular Sciences, 2018
Genetic variants associated with gastrointestinal symptoms in Fabry disease.
Di Martino MT et al.
Oncotarget, 2016
Molecular and clinical studies in five index cases with novel mutations in the GLA gene.
Zizzo C et al.
Gene, 2016
Antiproteinuric effect of add-on paricalcitol in Fabry disease patients: a prospective observational study.
Pisani A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2015
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease.
Porto C et al.
Journal of Inherited Metabolic Disease, 2012
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