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Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype.
San Román-Monserrat I, Moreno-Flores V, López-Cuenca D, Rodríguez-González-Herrero E, Guillén-Navarro E, Rodríguez-González-Herrero B, Alegría-Fernández M, Poza-Cisneros G, Piñero-Fernández JA, Sornichero-Martínez J, Gimeno-Blanes JR. San Román-Monserrat I, et al. Med Clin (Barc). 2014 Jun 6;142(11):497-504. doi: 10.1016/j.medcli.2014.01.032. Epub 2014 Mar 26. Med Clin (Barc). 2014. PMID: 24679964
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.
Quijada-Fraile P, Arranz Canales E, Martín-Hernández E, Ballesta-Martínez MJ, Guillén-Navarro E, Pintos-Morell G, Moltó-Abad M, Moreno-Martínez D, García Morillo S, Blasco-Alonso J, Couce ML, Gil Sánchez R, Cortès-Saladelafont E, López Rodríguez MA, García-Silva MT, Morales Conejo M. Quijada-Fraile P, et al. Orphanet J Rare Dis. 2021 Nov 3;16(1):464. doi: 10.1186/s13023-021-02074-y. Orphanet J Rare Dis. 2021. PMID: 34732228 Free PMC article.
[Participant-funded clinical trials on rare diseases].
Dal-Ré R, Palau F, Guillén-Navarro E, Ayuso C. Dal-Ré R, et al. An Pediatr (Engl Ed). 2020 Oct;93(4):267.e1-267.e9. doi: 10.1016/j.anpedi.2020.03.019. Epub 2020 Jun 1. An Pediatr (Engl Ed). 2020. PMID: 32499195 Free article. Spanish.
Participant-funded clinical trials on rare diseases.
Dal-Ré R, Palau F, Guillén-Navarro E, Ayuso C. Dal-Ré R, et al. An Pediatr (Engl Ed). 2020 Oct;93(4):267.e1-267.e9. doi: 10.1016/j.anpede.2020.03.005. Epub 2020 Oct 10. An Pediatr (Engl Ed). 2020. PMID: 34092344 Free article.
[Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum].
Ballesta Martínez MJ, Guillén Navarro E, López Expósito I, Bafalliu Vidal JA, Domingo Jiménez R, Guía Torrent JM, Robles Sánchez F, Sánchez Solís de Querol M. Ballesta Martínez MJ, et al. An Pediatr (Barc). 2008 Oct;69(4):304-10. doi: 10.1157/13126553. An Pediatr (Barc). 2008. PMID: 18928696 Free article. Spanish.
143 results