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Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.
Sarrión P, Sangorrin A, Urreizti R, Delgado A, Artuch R, Martorell L, Armstrong J, Anton J, Torner F, Vilaseca MA, Nevado J, Lapunzina P, Asteggiano CG, Balcells S, Grinberg D. Sarrión P, et al. Among authors: vilaseca ma. Sci Rep. 2013;3:1346. doi: 10.1038/srep01346. Sci Rep. 2013. PMID: 23439489 Free PMC article.
Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.
Urreizti R, Moya-García AA, Pino-Ángeles A, Cozar M, Langkilde A, Fanhoe U, Esteves C, Arribas J, Vilaseca MA, Pérez-Dueñas B, Pineda M, González V, Artuch R, Baldellou A, Vilarinho L, Fowler B, Ribes A, Sánchez-Jiménez F, Grinberg D, Balcells S. Urreizti R, et al. Among authors: vilaseca ma. Clin Genet. 2010 Nov;78(5):441-8. doi: 10.1111/j.1399-0004.2010.01391.x. Clin Genet. 2010. PMID: 20236116
Two successful pregnancies in pyridoxine-nonresponsive homocystinuria.
Vilaseca MA, Cuartero ML, Martinez de Salinas M, Lambruschini N, Pintó X, Urreizti R, Balcells S, Grinberg D. Vilaseca MA, et al. J Inherit Metab Dis. 2004;27(6):775-7. doi: 10.1023/b:boli.0000045840.18383.25. J Inherit Metab Dis. 2004. PMID: 15617186
Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.
Pérez-Dueñas B, García-Cazorla A, Pineda M, Poo P, Campistol J, Cusí V, Schollen E, Matthijs G, Grunewald S, Briones P, Pérez-Cerdá C, Artuch R, Vilaseca MA. Pérez-Dueñas B, et al. Among authors: vilaseca ma. Eur J Paediatr Neurol. 2009 Sep;13(5):444-51. doi: 10.1016/j.ejpn.2008.09.002. Epub 2008 Oct 22. Eur J Paediatr Neurol. 2009. PMID: 18948042
[Antiepileptic drugs and carnitine].
Campistol J, Chávez B, Vilaseca MA, Artuch R. Campistol J, et al. Among authors: vilaseca ma. Rev Neurol. 2000 Jun;30 Suppl 1:S105-9. Rev Neurol. 2000. PMID: 10904975 Spanish.
171 results