Associated Papers
Unveiling Functional Impairment in Fabry Disease: The Role of Peripheral vs. Cardiac Mechanisms.
Halasz G et al.
Biomedicines, 2025
Impact of ER stress and the unfolded protein response on Fabry disease.
Lenders M et al.
Ebiomedicine, 2025
Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies.
Borisch C et al.
Journal of Translational Medicine, 2024
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response.
Consolato F et al.
Molecular Genetics and Metabolism Reports, 2022
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
Early markers of Fabry disease revealed by proteomics.
Matafora V et al.
Molecular Biosystems, 2015
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
Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy.
Mignani R et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008
A diagnosis of Fabry gastrointestinal disease by chance: a case report.
Feriozzi S et al.
European Journal of Gastroenterology & Hepatology, 2007
Fabry disease: perspectives of urinary proteomics.
Cuccurullo M et al.
Journal of Nephrology, 0
p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease.
Carvalho Silva DM et al.
Cardiology, 0
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