Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report by Fernández-Marmiesse, A, Pérez-Poyato, M S, Fontalba, A, Marco de Lucas, E, Martínez, M T, Cabero Pérez, M J, Couce, M L

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Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series by Pineda, M., Perez-Poyato, M.S., O’Callaghan, M., Vilaseca, M.A., Pocovi, M., Domingo, R., Ruiz Portal, L., Verdú Pérez, A., Temudo, T., Gaspar, A., Garcia Peñas, J.J., Roldán, S., Martín Fumero, L., Blanco de la Barca, O., García Silva, M.T., Macías-Vidal, J., Coll, M.J.

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Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism by Yubero, Dèlia, Brandi, Núria, Ormazabal, Aida, Garcia-Cazorla, Àngels, Pérez-Dueñas, Belén, Campistol, Jaime, Ribes, Antonia, Palau, Francesc, Artuch, Rafael, Armstrong, Judith

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Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients by Pérez-Poyato, María-Socorro, Milà Recansens, Montserrat, Ferrer Abizanda, Isidre, Montero Sánchez, Raquel, Rodríguez-Revenga, Laia, Cusí Sánchez, Victoria, García González, M. Mar, Domingo Jiménez, Rosario, Camino León, Rafael, Velázquez Fragua, Ramón, Martínez-Bermejo, Antonio, Pineda Marfà, Mercè

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Late Infantile Neuronal Ceroid Lipofuscinosis: Mutations in the CLN2 Gene and Clinical Course in Spanish Patients by Pérez-Poyato, María S., Marfa, Mercé Pineda, Abizanda, Isidre Ferrer, Rodriguez-Revenga, Laia, Sánchez, Victoria Cusí, González, María J Martínez, Puñal, Jesús Eiris, Pérez, Alfonso Verdú, González, M Mar García, Bermejo, Antonio Martínez, Hernández, Elena Martín, Rosell, M Josep Coll, Gort, Laura, Milá, Montserrat

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Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann–Pick type C disease by Pérez-Poyato, María Socorro, Gordo, M Mar O'Callaghan, Marfa, Mercé Pineda

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Clinical features of the outbreak of Enterovirus infection with neurological impairment in children in the North of Spain by Hedrera Fernandez, A, Conejo Moreno, D, Sariego Jamardo, A, Rodriguez Fernandez, C, Maldonado Ruiz, M.E, Bermejo Arnedo, I, Ortiz Madinaveitia, S, Camina Gutierrez, A.B, Málaga Dieguez, I, Arribas Arceredillo, M, Garrido Barbero, M, Perez Poyato, M.S, Peña Valenceja, A, Blanco Lago, R, Perez Gutierrez, M.E, Cancho Candela, R

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Infantile neuronal ceroid lipofuscinosis: Follow-up on a Spanish series by Pérez Poyato, Maria Socorro, Milá Recansens, Montserrat, Ferrer Abizanda, Isidre, Domingo Jiménez, Rosario, López Lafuente, Amparo, Cusí Sánchez, Victoria, Rodriguez-Revenga, Laia, Coll Rosell, M. Josep, Gort, Laura, Póo Argüelles, Pilar, Pineda Marfa, Mercé

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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients by Xiol, Clara, Vidal, Silvia, Pascual-Alonso, Ainhoa, Blasco, Laura, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, O’Callaghan, Mar, Pineda, Mercè, Armstrong, Judith

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P18.12 Juvenile Neuronal Ceroid Lipofuscinosis: Clinical evolution and genetic studies in Spanish patients by del Socorro Pérez Poyato, M., Recasens, M. Milá, Abizanda, I. Ferrer, Sanchez, R. Montero, Sánchez, V. Cusí, Marfa, M. Pineda

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3FC1.2 Niemann-Pick disease type C when to give and discontinue treatment with substrate inhibitor therapy by Marfa, M. Pineda, del Socorro Pérez Poyato, M., del MarO' Callaghan Gordo, M., Vidal, J. Macías, Coll i Coll, M. Josep, Aracil, A.

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O6-2 Cerebral PET and disability evaluation in patients with Niemann Pick disease Type C treated with miglustat by Poyato, M.S. Perez, Marfa, M. Pineda, Vilaseca, M.A, Gordo, M.M. O'Callaghan, Macias, J, Coll, M.J

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