Associated Papers
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
37371567 (PubMed )
Supplement: biomolecules-13-00988-s001.zip › biomolecules-2391899-supplementary.xlsx › Sheet1
Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.
Cybulla M et al.
Journal of Clinical Medicine, 2022
36013057 (PubMed )
Supplement: jcm-11-04810-s001.zip › jcm-1818880-supplementary.pdf
Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches.
Lombardi S et al.
International Journal of Molecular Sciences, 2020
Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.
Lombardi S et al.
Rna Biology, 2020
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 2019
Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.
Lavalle L et al.
Plos One, 2018
29621274 (PubMed )
Supplement: pone.0193550.s004.pdf
Fabry disease in infancy and early childhood: a systematic literature review.
Laney DA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Fabry disease in children: correlation between ocular manifestations, genotype and systemic clinical severity.
Allen LE et al.
The British Journal of Ophthalmology, 2010
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
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