Search Results - "Quijada Fraile, P"

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.

“…We report clinical and biochemical finding from three unrelated patients presenting ONCE (Optic Neuropathy, Cardiomyopathy and Encephalopathy with lactic…”
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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.

“…Identification of very long-chain acyl-CoA dehydrogenase deficiency is possible in the expanded newborn screening (NBS) due to the increase in…”
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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

“…Summary Background & aims Mitochondrial diseases (MD) are the most frequent inborn errors of metabolism. In affected tissues, MD can alter cellular oxygen…”
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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

“…We present the nutritional and pharmacological management of a 2-year-old girl with a severe form of propionic acidaemia and a genitourinary embryonal…”
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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

“…Niemann-Pick type C is a lysosomal storage disorder caused by a defect in intracellular trafficking of cholesterol. It is a rare disease, usually caused by…”
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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

“…Resumen Introducción La enfermedad de Niemann-Pick tipo C está causada por un defecto en el transporte intracelular de colesterol que produce un acúmulo de…”
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De novo sporadic mutation in the KCND3 gene in a patient with early onset chronic ataxia by Carrasco-Marina, M L, Quijada-Fraile, P, Fernandez-Marmiesse, A, Gutierrez-Cruz, N, Martin-Del Valle, F

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

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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.

“…El objetivo del trabajo ha sido la valoración de las alteraciones del electrocardiograma (ECG) en los trastornos del comportamiento alimentario. Se estudiaron…”
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De novo sporadic mutation in the KCND3 gene in a patient with early onset chronic ataxia by Carrasco-Marina, M L, Quijada-Fraile, P, Fernandez-Marmiesse, A, Gutierrez-Cruz, N, Martin-Del Valle, F

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