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Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype.
Azevedo O, Gal A, Faria R, Gaspar P, Miltenberger-Miltenyi G, Gago MF, Dias F, Martins A, Rodrigues J, Reimão P, Pereira O, Simões S, Lopes E, Guimarães MJ, Sousa N, Cunha D. Azevedo O, et al. Among authors: cunha d. Mol Genet Metab. 2020 Feb;129(2):150-160. doi: 10.1016/j.ymgme.2019.07.012. Epub 2019 Jul 24. Mol Genet Metab. 2020. PMID: 31519519 Free article.
Screening for Fabry disease in patients with left ventricular noncompaction.
Azevedo O, Marques N, Craveiro N, Pereira AR, Antunes H, Reis L, Guerreiro RA, Pontes Dos Santos R, Miltenberger-Miltenyi G, Sousa N, Cunha D. Azevedo O, et al. Among authors: cunha d. Rev Port Cardiol (Engl Ed). 2019 Oct;38(10):709-716. doi: 10.1016/j.repc.2019.02.014. Epub 2020 Jan 1. Rev Port Cardiol (Engl Ed). 2019. PMID: 31901299 Free article. English, Portuguese.
Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?
Azevedo O, Marques N, Reis L, Cruz I, Craveiro N, Antunes H, Lourenço C, Gomes R, Guerreiro RA, Faria R, Sá F, Lima R, Gaspar P, Faria R, Miltenberger-Miltenyi G, Sousa N, Cunha D; group of investigators. Azevedo O, et al. Among authors: cunha d. Am Heart J. 2020 Aug;226:114-126. doi: 10.1016/j.ahj.2020.04.006. Epub 2020 Apr 18. Am Heart J. 2020. PMID: 32531501 Free article.
Fabry Disease Therapy: State-of-the-Art and Current Challenges.
Azevedo O, Gago MF, Miltenberger-Miltenyi G, Sousa N, Cunha D. Azevedo O, et al. Among authors: cunha d. Int J Mol Sci. 2020 Dec 28;22(1):206. doi: 10.3390/ijms22010206. Int J Mol Sci. 2020. PMID: 33379210 Free PMC article. Review.
Fabry Disease and the Heart: A Comprehensive Review.
Azevedo O, Cordeiro F, Gago MF, Miltenberger-Miltenyi G, Ferreira C, Sousa N, Cunha D. Azevedo O, et al. Among authors: cunha d. Int J Mol Sci. 2021 Apr 23;22(9):4434. doi: 10.3390/ijms22094434. Int J Mol Sci. 2021. PMID: 33922740 Free PMC article. Review.
Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation.
Azevedo O, Gago MF, Miltenberger-Miltenyi G, Robles AR, Costa MA, Pereira O, Vide AT, Castelo Branco G, Simões S, Guimarães MJ, Salgado A, Sousa N, Cunha D. Azevedo O, et al. Among authors: cunha d. Mol Genet Metab Rep. 2020 Feb 15;22:100565. doi: 10.1016/j.ymgmr.2020.100565. eCollection 2020 Mar. Mol Genet Metab Rep. 2020. PMID: 32099817 Free PMC article.
629 results