Efficacy of the ketogenic diet in children and adolescents with refractory epilepsy in a tertiary hospital von Itzep, D, López, F, Baide, H, Guio, L, Ramírez, A, Aparicio, J, Campistol, J, Arzimanoglou, Alexis, San Antonio, V

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Quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase deficiency (PMM2-CDG) von Serrano, N.L, Cuadras, D, de Diego, V, Martínez-Monseny, A.F, Velázquez-Fragua, R, López, L, Felipe, A, Miranda, M.C, Carratala, F, Couce, M.L, Gutierrez-Solana, L.G, Macaya, A, Muchart, J, Montero, R, Artuch, R, Pérez-Cerdá, C, Pérez, B, Itzep, D, Pérez-Dueñas, B, Serrano, M

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P.168Clinical spectrum and histopathological characterization of alpha-dystroglycanopathies von Bobadilla, E., Codina, A., Jou, C., Natera, D., Carrera, L., Ortez, C., Yubero, D., Martorell, L., Gonzalez, L., Gallano, P., Exposito, J., Corbera, J., Itzep, D., Colomer, J., Jimenenez-Mallebrera, C., Nascimento, A.

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P.118 - Prospective cohort study of spinal muscular atrophy types 2 and 3 in Spanish population von Natera-de Benito, D., Alarcon, M., Borrás, A., Armas, J., Frongia, A., Itzep, D., Vigo, M., Medina, J., Ortez, C., Colomer, J., Nascimento, A.

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Prospective cohort study of spinal muscular atrophy types 2 and 3 in Spanish population von Natera-de Benito, D., Alarcon, M., Borrás, A., Armas, J., Frongia, A., Itzep, D., Vigo, M., Medina, J., Ortez, C., Colomer, J., Nascimento, A.

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X-Linked myotubular myopathy (XLMTM): phenotypic variability von Ortez, C., Natera, D., Colomer, J., Itzep, D., Alarcón, M., Frongia, A., Jou, C., Codina, A., Jimenez-Mallebrera, C., Martorell, L., Biancalana, V., González, L., Gallano, P., Nascimento, A.

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RYR1 -related myopathies: A wide range of clinical phenotypes and pathological histotypes von Frongia, A., Ortez, C., Natera, D., Itzep, D. Cortiza, Alarcón, M., Maioli, M., Suarez, A. Maritza Betancourt, Jou, C., Codina, A., Corbera, J., Gonzalez, L., Gallano, P., Colomer, J., Jimenez-Mallebrera, C., Nascimento, A.

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P.481 - RYR1-related myopathies: A wide range of clinical phenotypes and pathological histotypes von Frongia, A., Ortez, C., Natera, D., Itzep, D. Cortiza, Alarcón, M., Maioli, M., Suarez, A. Maritza Betancourt, Jou, C., Codina, A., Corbera, J., Gonzalez, L., Gallano, P., Colomer, J., Jimenez-Mallebrera, C., Nascimento, A.

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P.249 - X-Linked myotubular myopathy (XLMTM): phenotypic variability von Ortez, C., Natera, D., Colomer, J., Itzep, D., Alarcón, M., Frongia, A., Jou, C., Codina, A., Jimenez-Mallebrera, C., Martorell, L., Biancalana, V., González, L., Gallano, P., Nascimento, A.

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P.419 - Cataracts, cognitive impairment, and congenital myasthenic syndrome with myopathic features caused by mutation in GMPPB gene von Nascimento, A., Ortez, C., Natera, D., Frongia, A., Alarcon, M., Itzep, D., Jou, C., Codina, A., Corbera, J., Jimenez – Mallebrera, C., Rodriguez, M., González, L., Gallano, P., Colomer, J.

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Cataracts, cognitive impairment, and congenital myasthenic syndrome with myopathic features caused by mutation in GMPPB gene von Nascimento, A., Ortez, C., Natera, D., Frongia, A., Alarcon, M., Itzep, D., Jou, C., Codina, A., Corbera, J., Jimenez – Mallebrera, C., Rodriguez, M., González, L., Gallano, P., Colomer, J.

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P.44 - A case of severe encephalopathy and movement disorder due to mutations in the TRAPPC11 gene von Nascimento, A., Ortez, C., Colomer, J., Natera, D., Frongia, A., Alarcon, M., Itzep, D., Jou, C., Codina, A., Corbera, J., Rodriguez, M., Rodriguez, M., González, L., Gallano, P., Sacher, M., Topf, A., Straub, V., Jimenez-Mallebrera, C.

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Congenital muscular dystrophy with cataracts and mild cognitive impairment cause by mutations in INPP5K : Overlapping Marinesco-Sjögren syndrome and dystroglycanopathy von Nascimento, A., Ortez, C., Jou, C., Alarcón, M., Bates, A., Topf, A., Itzep, D., Natera, D., Frongia, A., Codina, A., Gonzalez, L., Pia, G., Straub, V., Jimenez-Mallebrera, C., Colomer, J.

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P.40 - Congenital muscular dystrophy with cataracts and mild cognitive impairment cause by mutations in INPP5K: Overlapping Marinesco-Sjögren syndrome and dystroglycanopathy von Nascimento, A., Ortez, C., Jou, C., Alarcón, M., Bates, A., Topf, A., Itzep, D., Natera, D., Frongia, A., Codina, A., Gonzalez, L., Pia, G., Straub, V., Jimenez-Mallebrera, C., Colomer, J.

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A case of severe encephalopathy and movement disorder due to mutations in the TRAPPC11 gene von Nascimento, A., Ortez, C., Colomer, J., Natera, D., Frongia, A., Alarcon, M., Itzep, D., Jou, C., Codina, A., Corbera, J., Rodriguez, M., González, L., Gallano, P., Sacher, M., Topf, A., Straub, V., Jimenez-Mallebrera, C.

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