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Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry.
Front Immunol. 2022 Oct 28;13:1033666. doi: 10.3389/fimmu.2022.1033666. eCollection 2022.
Front Immunol. 2022.
PMID: 36389743
Free PMC article.
Pearls & Oy-sters: Challenges and Controversies in Wilson Disease.
Ruiz-Lopez M, Moreno Estébanez A, Tijero B, Fernandez T, Rebollo-Perez A, Gabilondo I, Lopez-Osle N, Ceberio-Hualde L, Zarranz JJ, Gomez-Esteban JC.
Ruiz-Lopez M, et al. Among authors: lopez osle n.
Neurology. 2022 Aug 9;99(6):251-255. doi: 10.1212/WNL.0000000000200836. Epub 2022 Jun 13.
Neurology. 2022.
PMID: 35940888
Free PMC article.
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Urine Phenylacetylglutamine Determination in Patients with Hyperphenylalaninemia.
Andrade F, Cano A, Unceta Suarez M, Arza A, Vinuesa A, Ceberio L, López-Oslé N, de Frutos G, López-Oceja R, Aznal E, González-Lamuño D, de Las Heras J.
Andrade F, et al. Among authors: lopez osle n.
J Clin Med. 2021 Aug 19;10(16):3674. doi: 10.3390/jcm10163674.
J Clin Med. 2021.
PMID: 34441968
Free PMC article.
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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.
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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.
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