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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.
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.
PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria.
Riera-Mestre A, García Morillo JS, Castelbón Fernández J, Hernández-Contreras ME, Aguilera Peiró P, Jacob J, Martínez Valle F, Guillén-Navarro E, Morales-Conejo M. Riera-Mestre A, et al. Among authors: garcia morillo js. Rev Clin Esp (Barc). 2024 May;224(5):272-280. doi: 10.1016/j.rceng.2024.04.010. Epub 2024 Apr 18. Rev Clin Esp (Barc). 2024. PMID: 38642893 Free article.
Clinical characterization and outcomes of 85 patients with neurosarcoidosis.
Ramos-Casals M, Pérez-Alvarez R, Kostov B, Gómez-de-la-Torre R, Feijoo-Massó C, Chara-Cervantes J, Pinilla B, González-García A, Garcia-Morillo JS, López-Dupla M, De-Escalante B, Rascón J, Perez-Guerrero P, Bonet M, Cruz-Caparrós G, Alguacil A, Callejas JL, Calvo E, Soler C, Robles A, de Miguel-Campo B, Oliva-Nacarino P, Estela-Herrero J, Pallarés L, Brito-Zerón P, Blanco Y; SarcoGEAS-SEMI Registry. Ramos-Casals M, et al. Among authors: garcia morillo js. Sci Rep. 2021 Jul 2;11(1):13735. doi: 10.1038/s41598-021-92967-6. Sci Rep. 2021. PMID: 34215779 Free PMC article.
Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.
Sánchez-Martínez R, Iriarte A, Mora-Luján JM, Patier JL, López-Wolf D, Ojeda A, Torralba MA, Juyol MC, Gil R, Añón S, Salazar-Mendiguchía J, Riera-Mestre A; RiHHTa Investigators of the Rare Diseases Working Group from the Spanish Society of Internal Medicine. Sánchez-Martínez R, et al. Orphanet J Rare Dis. 2020 Jun 5;15(1):138. doi: 10.1186/s13023-020-01422-8. Orphanet J Rare Dis. 2020. PMID: 32503579 Free PMC article.
41 results