Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye’s syndrome by 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 by 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 by 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 by 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) by 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 by 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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Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes by Fraile, P Quijada, Hernández, E Martín, Martínez de Aragón, A, Macias-Vidal, J, Coll, M J, Espert, A Nogales, Silva, M T García

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EP.18Mutations in TRAPPC11 are associated with Rett-like syndrome in absence of significant muscle involvement by 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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Enfermedad de Niemann-Pick tipo C: desde una colestasis neonatal hacia un deterioro neurológico. Variabilidad fenotípica by Quijada Fraile, P, Martín Hernández, E, Martínez de Aragón, A, Macias-Vidal, J, Coll, M.J, Nogales Espert, A, García Silva, M.T

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P375 COMPARISON BETWEEN WORLD HEALTH ORGANISATION (WHO) 2006 GROWTH STANDARDS AND USUAL CHILD GROWTH CHARTS USED IN SPAIN by 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 by 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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El electrocardiograma en la anorexia y bulimia nerviosas. Alteraciones del ritmo y la actividad eléctrica by Baño Rodrigo, A., Brañas Fernández, P., Tamariz-Martel Moreno, A., López Saldaña, D., Ibáñez Rubio, M., Quijada Fraile, P.

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