Data | Título | Autor(es) | Tipo | Acesso |
18-Nov-2019 | Clinical decision support using machine learning: Parkinsonism and Fabry Disease | Fernandes, Carlos Rafael Moreira | Dissertação de mestrado | Acesso aberto |
Jun-2018 | Inner ear involvement in Fabry disease: Clinical and audiometric evaluation of a large cohort of patients followed in a reference centre | Rodrigues, Jorge; Azevedo, Olga; Sousa, Nuno, et al. | Artigo | Acesso aberto |
2017 | Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease | Azevedo, Olga; Gago, Miguel; Miltenberger-Miltenyi, Gabriel, et al. | Artigo | Acesso restrito autor |
Jun-2017 | New biomarkers defining a novel early stage of Fabry nephropathy: A diagnostic test study | Aguiar, Patrício; Azevedo, Olga; Pinto, Rui, et al. | Artigo | Acesso restrito autor |
2019 | p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease | Carvalho Silva, Daniela Marisa; Marques, Nuno; Azevedo, Olga, et al. | Artigo | Acesso restrito autor |
15-Fev-2014 | Reduced glucosylceramide in the mouse model of Fabry disease: correction by successful enzyme replacement therapy | Quinta, Rui; Rodrigues, Daniel; Assunção, Marisa, et al. | Artigo | Acesso restrito autor |