Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye’s syndrome von Bellusci, M., Quijada-Fraile, P., Barrio-Carreras, D., Martin-Hernandez, E., Garcia-Silva, M., Merinero, B., Perez, B., Hernandez-Lain, A.

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The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome von Martín, M.Á., García‐Silva, M.T., Barcia, G., Delmiro, A., Rodríguez‐García, M.E., Blázquez, A., Francisco‐Álvarez, R., Martín‐Hernández, E., Quijada‐Fraile, P., Tejada‐Palacios, P., Arenas, J., Santos, C., Martínez‐Azorín, F.

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Four Years’ Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers von Merinero, B., Alcaide, P., Martín-Hernández, E., Morais, A., García-Silva, M. T., Quijada-Fraile, P., Pedrón-Giner, C., Dulin, E., Yahyaoui, R., Egea, J. M., Belanger-Quintana, A., Blasco-Alonso, J., Fernandez Ruano, M. L., Besga, B., Ferrer-López, I., Leal, F., Ugarte, M., Ruiz-Sala, P., Pérez, B., Pérez-Cerdá, C.

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Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry von Fiuza-Luces, C, Santos-Lozano, A, García-Silva, M.T, Martín-Hernández, E, Quijada-Fraile, P, Marín-Peiró, M, Campos, P, Arenas, J, Lucía, A, Martín, M.A, Morán, M

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Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) von Serrano, M, de Diego, V, Martínez-Montseny, A.F, Cuadras, D, Muchart, J, Velázquez-Fragua, R, López, L, Gutiérrez-Solana, L.G, Felipe, A, Macaya, A, Cancho, R, Carrasco, M.Ll, Carratalá, F, Miranda, M.C, Lopez-Laso, E, Sierra-Córcoles, M.C, Couce, M.L, Quijada-Fraile, P, García, O, Pérez-Dueñas, B, Poretti, A

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Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides von Martín-Hernández, E, Quijada-Fraile, P, Oliveros-Leal, L, García-Silva, MT, Pérez-Cerdá, C, Baro-Fernández, M, Pérez-Alonso, V, Vivanco, JL

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EP.18Mutations in TRAPPC11 are associated with Rett-like syndrome in absence of significant muscle involvement von Vila-Bedmar, S., Quijada-Fraile, P., Martinez-Azorin, F., Hernández-Lain, A., Cancho-Candela, R., Núñez-Enamorado, N., Camacho-Salas, A.

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Mutación puntual de novo en el gen KCND3 en un paciente con ataxia crónica de inicio precoz von Carrasco Marina, Mª Llanos, Quijada Fraile, Pilar, Fernández Marmiesse, Ana, Gutiérrez Cruz, Nuria, Martín del Valle, Fernando

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De novo sporadic mutation in the KCND3 gene in a patient with early onset chronic ataxia von Carrasco-Marina, M L, Quijada-Fraile, P, Fernandez-Marmiesse, A, Gutierrez-Cruz, N, Martin-Del Valle, F

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Evolución clínica de dos pacientes pediátricos con enfermedad de Gaucher en tratamiento enzimático durante 9 años von Quijada Fraile, Pilar, Martín Hernández, Elena, Teresa García-Silva, María

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Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience von Quijada-Fraile, P, Arranz Canales, E, Martín-Hernández, E, Ballesta-Martínez, MJ, Guillén-Navarro, E, Pintos-Morell, G, Moltó-Abad, M, Moreno-Martínez, D, García Morillo, S, Blasco-Alonso, J, Couce, ML, Gil Sánchez, R, Cortès-Saladelafont, E, López Rodríguez, MA, García-Silva, MT, Morales Conejo, M

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P375 COMPARISON BETWEEN WORLD HEALTH ORGANISATION (WHO) 2006 GROWTH STANDARDS AND USUAL CHILD GROWTH CHARTS USED IN SPAIN von Martínez Zazo, A.B, Ojembarrena, A. Alonso, Giner, C. Pedron, Fraile, P. Quijada, Sanchez, E. Agüero

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P376 REGISTER OF PAEDIATRIC HOME ENTERAL NUTRITION (PHEN) OF SPANISH SOCIETY FOR PAEDIATRIC GASTROENTEROLOGY, HEPATOLOGY AND NUTRITION FROM 2003 TO 2007 von Martínez Zazo, A.B, Fraile, P. Quijada, Giner, C. Pedrön, Redecillas Ferreiro, S.E, Moreno Villares, J.M, Oiz, A. Lavilla, Camps, A. Rosells, Löpez, L. Gömez, Alonso, J. Blasco, Canals Badia, M.J, Costa, C. Martínez, Junquera, C. Gutiérrez, Visus, F. Sánchez-Valverde, de Miguelsanz, J.M. Marugan, Jornet, P. Genaro

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De novo sporadic mutation in the KCND3 gene in a patient with early onset chronic ataxia von Carrasco-Marina, M L, Quijada-Fraile, P, Fernandez-Marmiesse, A, Gutierrez-Cruz, N, Martin-Del Valle, F

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