Associated Papers
Reducing agalsidase beta infusion time in Fabry patients: low incidence of antibody formation and infusion-associated reactions in an Italian multicenter study.
Mignani R et al.
Orphanet Journal of Rare Diseases, 2024
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
Germain DP et al.
Journal of Medical Genetics, 2020
Fabry disease in a Japanese population-molecular and biochemical characteristics.
Sakuraba H et al.
Molecular Genetics and Metabolism Reports, 2018
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G et al.
International Journal of Molecular Sciences, 2018
Different renal phenotypes in related adult males with Fabry disease with the same classic genotype.
Mignani R et al.
Molecular Genetics & Genomic Medicine, 2017
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
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
Liguori R et al.
Plos One, 2017
Early markers of Fabry disease revealed by proteomics.
Matafora V et al.
Molecular Biosystems, 2015
Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease.
Sueoka H et al.
Plos One, 2015
Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease.
Tsukimura T et al.
Molecular Genetics and Metabolism Reports, 2014
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
Subfoveal choroidal neovascularization in a patient with Fabry's disease.
Sodi A et al.
International Ophthalmology, 2009
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
Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: a pilot study.
Mignani R et al.
Kidney International, 2004
[Molecular genetics of Fabry disease].
Sakuraba H
Seikagaku. the Journal of Japanese Biochemical Society, 1989
Fabry disease: perspectives of urinary proteomics.
Cuccurullo M et al.
Journal of Nephrology, 0