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Page 1
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García-Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez MR, García-Silva MT, González-Gutiérrez-Solana L, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, Mártinez-Bugallo F, Martín-Viota L, Vitoria-Miñana I, Lefeber DJ, Girós ML, Serrano Gimare M, Ugarte M, Pérez B, Pérez-Cerdá C. Medrano C, et al. Among authors: cabrera jc. Clin Genet. 2019 May;95(5):615-626. doi: 10.1111/cge.13508. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30653653
Congenital disorder of glycosylation (CDG) type Ie. A new patient.
García-Silva MT, Matthijs G, Schollen E, Cabrera JC, Sanchez del Pozo J, Martí Herreros M, Simón R, Maties M, Martín Hernández E, Hennet T, Briones P. García-Silva MT, et al. Among authors: cabrera jc. J Inherit Metab Dis. 2004;27(5):591-600. doi: 10.1023/b:boli.0000042984.42433.d8. J Inherit Metab Dis. 2004. PMID: 15669674
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Vanegas MI, Marcé-Grau A, Martí-Sánchez L, Mellid S, Baide-Mairena H, Correa-Vela M, Cazurro A, Rodríguez C, Toledo L, Fernández-Ramos JA, Pons R, Aguilera-Albesa S, Martí MJ, Eiris J, Iglesias G, De Fabregues O, Maqueda E, Garriz-Luis M, Madruga M, Espinós C, Macaya A, Cabrera JC, Pérez-Dueñas B. Vanegas MI, et al. Among authors: cabrera jc. Parkinsonism Relat Disord. 2020 Nov;80:165-174. doi: 10.1016/j.parkreldis.2020.09.023. Epub 2020 Sep 21. Parkinsonism Relat Disord. 2020. PMID: 33022436
[Rett's syndrome in the Spanish population].
Pineda M, Aracil A, Vernet A, Espada M, Cobo E, Arteaga R, Artigas J, Barrionuevo C, Bautista-González L, Berenguer-Molla R, Caballero J, Cabrera J, Campistol J, Campos J, Casas-Fernández C, Castelló M, Castro-Gago M, Castroviejo P, Colomer J, Delgado P, Domingo R, Domínguez-Jiménez A, Fernández-Alvarez E, García-Aymerich J, Vidal R, et al. Pineda M, et al. Rev Neurol. 1999 Jan 1-15;28(1):105-9. Rev Neurol. 1999. PMID: 10101777 Review. Spanish.
36 results