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Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease.
Blanco R, Rico-Ramírez Y, Hermida-Ameijeiras Á, Abdullah IMS, Lau K, Alvarez-Rubio J, Fortuny E, Martínez-Monzonís A, Nowak A, Nordbeck P, Veras-Burgos C, Pons-Llinares J, Rossi E, Caimi-Martínez F, Bosch-Rovira T, Alamar-Cervera M, Ruiz-Pizarro V, Torres-Juan L, Heine-Suñer D, Ripoll-Vera T. Blanco R, et al. Among authors: ripoll vera t. Int J Mol Sci. 2024 Apr 12;25(8):4299. doi: 10.3390/ijms25084299. Int J Mol Sci. 2024. PMID: 38673884 Free PMC article.
New Variant in Placophilin-2 Gene Causing Arrhythmogenic Myocardiopathy.
Caimi-Martinez F, Antoniutti G, Blanco R, García de la Villa B, Alvarenga N, Govea-Callizo N, Torres-Juan L, Heine-Suñer D, Rosell-Andreo J, Luengos DC, Alvarez-Rubio J, Ripoll-Vera T. Caimi-Martinez F, et al. Genes (Basel). 2022 Apr 27;13(5):782. doi: 10.3390/genes13050782. Genes (Basel). 2022. PMID: 35627167 Free PMC article.
Fabry cardiomyopathy: parametric mapping adds even more.
Ruiz Pizarro V, Álvarez Rubio J, Soleto Roncero MJ, Ripoll-Vera T. Ruiz Pizarro V, et al. Rev Esp Cardiol (Engl Ed). 2022 Oct;75(10):845-847. doi: 10.1016/j.rec.2022.03.010. Epub 2022 Jun 5. Rev Esp Cardiol (Engl Ed). 2022. PMID: 35676176 English, Spanish. No abstract available.
The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.
Sánchez R, Ripoll-Vera T, López-Mendoza M, de Juan-Ribera J, Gimeno JR, Hermida Á, Ruz-Zafra MA, Torregrosa JV, Mora A, García-Pinilla JM, Fortuny E, Aguinaga-Barrilero A, Torra R. Sánchez R, et al. Orphanet J Rare Dis. 2023 Jan 9;18(1):8. doi: 10.1186/s13023-022-02599-w. Orphanet J Rare Dis. 2023. PMID: 36624527 Free PMC article.
Association between aortic stenosis and hereditary transthyretin amyloidosis.
Ripoll-Vera T, Álvarez Rubio J, Iglesias M, Losada López I, Ferrer-Nadal A, González Moreno J. Ripoll-Vera T, et al. Rev Esp Cardiol (Engl Ed). 2021 Feb;74(2):185-187. doi: 10.1016/j.rec.2020.05.037. Epub 2020 Aug 7. Rev Esp Cardiol (Engl Ed). 2021. PMID: 32778403 English, Spanish. No abstract available.
84 results