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Page 1
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Fernández-Marmiesse A, Morey M, Pineda M, Eiris J, Couce ML, Castro-Gago M, Fraga JM, Lacerda L, Gouveia S, Pérez-Poyato MS, Armstrong J, Castiñeiras D, Cocho JA. Fernández-Marmiesse A, et al. Among authors: perez poyato ms. Orphanet J Rare Dis. 2014 Apr 25;9:59. doi: 10.1186/1750-1172-9-59. Orphanet J Rare Dis. 2014. PMID: 24767253 Free PMC article.
Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series.
Pineda M, Perez-Poyato MS, O'Callaghan M, Vilaseca MA, Pocovi M, Domingo R, Portal LR, Pérez AV, Temudo T, Gaspar A, Peñas JJ, Roldán S, Fumero LM, de la Barca OB, Silva MT, Macías-Vidal J, Coll MJ. Pineda M, et al. Mol Genet Metab. 2010 Apr;99(4):358-66. doi: 10.1016/j.ymgme.2009.11.007. Epub 2009 Nov 29. Mol Genet Metab. 2010. PMID: 20056559
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
Pérez-Poyato MS, Milà Recansens M, Ferrer Abizanda I, Montero Sánchez R, Rodríguez-Revenga L, Cusí Sánchez V, García González MM, Domingo Jiménez R, Camino León R, Velázquez Fragua R, Martínez-Bermejo A, Pineda Marfà M. Pérez-Poyato MS, et al. J Inherit Metab Dis. 2011 Oct;34(5):1083-93. doi: 10.1007/s10545-011-9323-7. Epub 2011 Apr 16. J Inherit Metab Dis. 2011. PMID: 21499717
Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series.
Pérez Poyato MS, Milá Recansens M, Ferrer Abizanda I, Domingo Jiménez R, López Lafuente A, Cusí Sánchez V, Rodriguez-Revenga L, Coll Rosell MJ, Gort L, Póo Argüelles P, Pineda Marfa M. Pérez Poyato MS, et al. Gene. 2012 May 15;499(2):297-302. doi: 10.1016/j.gene.2012.02.013. Epub 2012 Feb 22. Gene. 2012. PMID: 22387303
15 results