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Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals.
Pérez-López J, Ceberio-Hualde L, García-Morillo JS, Grau-Junyent JM, Hermida Ameijeiras A, López-Rodríguez M, Milisenda JC, Moltó Abad M, Morales-Conejo M, Nava Mateos JJ. Pérez-López J, et al. Mol Genet Metab Rep. 2017 Feb 3;10:92-95. doi: 10.1016/j.ymgmr.2017.01.011. eCollection 2017 Mar. Mol Genet Metab Rep. 2017. PMID: 28224082 Free PMC article.
[Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement].
Pérez-López J, Ceberio-Hualde L, García Morillo JS, Grau-Junyent JM, Hermida Ameijeiras Á, López-Rodríguez M, Morales-Conejo M, Nava Mateos JJ, Aldámiz Echevarri Azuara LJ, Campistol J, Couce ML, García-Silva MT, González Gutiérrez-Solana L, Del Toro M; Sociedad Española de Medicina Interna (SEMI); Sociedad Española de Neurología Pediátrica (SENEP). Pérez-López J, et al. Med Clin (Barc). 2016 Dec 2;147(11):506.e1-506.e7. doi: 10.1016/j.medcli.2016.09.018. Epub 2016 Nov 3. Med Clin (Barc). 2016. PMID: 27816186 Spanish.
Transition from paediatric care to adult care for patients with mucopolysaccharidosis.
Couce ML, Del Toro M, García-Jiménez MC, Gutierrez-Solana L, Hermida-Ameijeiras Á, López-Rodríguez M, Pérez-López J, Torralba MÁ. Couce ML, et al. Rev Clin Esp (Barc). 2018 Jan-Feb;218(1):17-21. doi: 10.1016/j.rce.2017.06.005. Epub 2017 Jul 18. Rev Clin Esp (Barc). 2018. PMID: 28732796 English, Spanish.
Computerized registry of patients with hemorrhagic hereditary telangiectasia (RiHHTa Registry) in Spain: Objectives, methods, and preliminary results.
Riera-Mestre A, Mora Luján JM, Sanchez Martínez R, Torralba Cabeza MA, Patier de la Peña JL, Juyol Rodrigo MC, Lopez Wolf D, Ojeda Sosa A, Monserrat L, López Rodríguez M; en representación de los Investigadores del Registro RiHHTa; Miembros del Registro RiHHTa del Grupo de Trabajo en Enfermedades Minoritarias de la Sociedad Española de Medicina Interna. Riera-Mestre A, et al. Rev Clin Esp (Barc). 2018 Dec;218(9):468-476. doi: 10.1016/j.rce.2018.07.002. Epub 2018 Sep 1. Rev Clin Esp (Barc). 2018. PMID: 30177223 English, Spanish.
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.
Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals.
de Dios García-Díaz J, López-Rodríguez M, Morales-Conejo M, Riera-Mestre A; Minority Diseases Working Group from the Spanish Society of Internal Medicine. de Dios García-Díaz J, et al. Orphanet J Rare Dis. 2022 Jan 14;17(1):17. doi: 10.1186/s13023-021-02168-7. Orphanet J Rare Dis. 2022. PMID: 35031060 Free PMC article.
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers.
López-Valverde L, Vázquez-Mosquera ME, Colón-Mejeras C, Bravo SB, Barbosa-Gouveia S, Álvarez JV, Sánchez-Martínez R, López-Mendoza M, López-Rodríguez M, Villacorta-Argüelles E, Goicoechea-Diezhandino MA, Guerrero-Márquez FJ, Ortolano S, Leao-Teles E, Hermida-Ameijeiras Á, Couce ML. López-Valverde L, et al. Among authors: lopez rodriguez m. Transl Res. 2024 Jul;269:47-63. doi: 10.1016/j.trsl.2024.02.006. Epub 2024 Feb 21. Transl Res. 2024. PMID: 38395389 Free article.
[Fabry disease in Spain: first analysis of the response to enzyme replacement therapy].
Rivera Gallego A, López Rodríguez M, Barbado Hernández FJ, Barba Romero MA, García de Lorenzo Y Mateos A, Pintos Morelle G; Grupo Español de Estudio de Fabry Outcome Survey. Rivera Gallego A, et al. Med Clin (Barc). 2006 Oct 7;127(13):481-4. doi: 10.1157/13093265. Med Clin (Barc). 2006. PMID: 17043001 Spanish.
318 results