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
MiRNA Let-7a and Let-7d Are Induced by Globotriaosylceramide via NF-kB Activation in Fabry Disease.
Maier N et al.
Genes, 2021
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
In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.
Sahashi K et al.
Nucleic Acids Research, 2007
17726045 (PubMed )
Supplement: nar_gkm647_2.pdf
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E et al.
Human Mutation, 2005
High prevalence of subclinical hypothyroidism in patients with Anderson-Fabry disease.
Hauser AC et al.
Journal of Inherited Metabolic Disease, 2005
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