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
The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.
Sánchez R et al.
Orphanet Journal of Rare Diseases, 2023
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
Goicoechea M et al.
Nefrologia, 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
[Genetic and clinical study of three Chinese pedigrees with Fabry disease].
Tian ML et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.
Shin SH et al.
Pharmacogenetics and Genomics, 2008
Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
Rodríguez-Marí A et al.
Human Mutation, 2003
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
Ashley GA et al.
Journal of Human Genetics, 2001
Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.
Davies JP et al.
European Journal of Human Genetics : Ejhg, 1996
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
Goicoechea M et al.
Nefrologia, 0
Select a paper to view details