Associated Papers
A late-onset male Fabry disease patient with somatic mosaicism of a classical GLA mutation: a case report.
Bae EH et al.
Annals of Palliative Medicine, 2021
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
Lukas J et al.
International Journal of Molecular Sciences, 2020
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
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
Endocrine dysfunction in patients with Fabry disease.
Faggiano A et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
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