Search Results - "García‐Silva, M. T."

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.

“…Niemann–Pick disease type C (NP-C) is an inherited neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration…”
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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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Mitochondrial diseases in children: neuroradiological and clinical features in 17 patients by MUNOZ, A, MATEOS, F, SIMON, R, GARCIA-SILVA, M. T, CABELLO, S, ARENAS, J

“…Mitochondrial diseases result from structural, biochemical or genetic defects of mitochondria, which contain the respiratory chain. They usually affect…”
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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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Understanding Mitochondrial Diseases by García-Silva, M.T, Arenas, J, Morán, M

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Congenital disorder of glycosylation (CDG) type Ie. A new patient by García‐Silva, M. T., Matthijs, G., Schollen, E., Cabrera, J. C., Pozo, J. Sanchez, Herreros, M. Martí, Simón, R., Maties, M., Hernández, E. Martín, Hennet, T., Briones, P.

“…CDG Ie is caused by a deficiency of dolichol‐phosphate‐mannose synthase 1 (DPM1), an enzyme involved in N‐glycan assembly in the endoplasmic reticulum. Three…”
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Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization by Martínez, Rosa, Gutierrez‐Nogués, Ángel, Fernández‐Ramos, Concepción, Velayos, Teresa, Vela, Amaia, Navas, María‐Ángeles, Castaño, Luis, Gil‐Campos, M, Murillo‐Vallés, M, García‐Silva, MT, Blanco, C

“…Summary Background Mutations in the GCK gene lead to different forms of glucokinase (GCK)‐disease, activating mutations cause hyperinsulinaemic hypoglycaemia…”
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MITOCHONDRIAL DISEASES ASSOCIATED WITH CEREBRAL FOLATE DEFICIENCY by GARCIA-CAZORLA, A, QUADROS, E. V, ARENAS, J, PINEDA, M, RAMAEKERS, V. T, NASCIMENTO, A, GARCIA-SILVA, M. T, BRIONES, P, MONTOYA, J, ORMAZABAL, A, ARTUCH, R, SEQUEIRA, J. M, BLAU, N

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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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Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature by Cañueto, J., Girós, M., Ciria, S., Pi-Castán, G., Artigas, M., García-Dorado, J., García-Patos, V., Virós, A., Vendrell, T., Torrelo, A., Hernández-Martín, Á., Martín-Hernández, E., Garcia-Silva, M.T., Fernández-Burriel, M., Rosell, J., Tejedor, M., Martínez, F., Valero, J., García, J.L., Sánchez-Tapia, E.M., Unamuno, P., González-Sarmiento, R.

“…Summary Background  Conradi–Hünermann–Happle syndrome (CDPX2, OMIM 302960) is an inherited X‐linked dominant variant of chondrodysplasia punctata which…”
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PDH E 1 β deficiency with novel mutations in two patients with Leigh syndrome by Quintana, E., Mayr, J. A., García Silva, M. T., Font, A., Tortoledo, M. A., Moliner, S., Ozaez, L., Lluch, M., Cabello, A., Ricoy, J. R., Koch, J., Ribes, A., Sperl, W., Briones, P.

“…Most cases of pyruvate dehydrogenase complex (PDHc) deficiency are attributable to mutations in the PDHA1 gene which encodes the E 1 α subunit, with few cases…”
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PDH E1β deficiency with novel mutations in two patients with Leigh syndrome by Quintana, E., Mayr, J. A., García Silva, M. T., Font, A., Tortoledo, M. A., Moliner, S., Ozaez, L., Lluch, M., Cabello, A., Ricoy, J. R., Koch, J., Ribes, A., Sperl, W., Briones, P.

“…Summary Most cases of pyruvate dehydrogenase complex (PDHc) deficiency are attributable to mutations in the PDHA1 gene which encodes the E 1 α subunit, with…”
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Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate‐deficient glycoprotein syndrome by García Silva, M. T., Castro, J., Stibler, H., Simón, R., Chasco Yrigoyen, A., Mateos, F., Ferrer, I., Madero, S., Velasco, J. M., Guttierrez‐Larraya, F.

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Therapeutic effects of docosahexaenoic acid ethyl ester in patients with generalized peroxisomal disorders by MARTINEZ, M, VAZQUEZ, E, GARCIA-SILVA, M. T, MANZANARES, J, BERTRAN, J. M, CASTELLO, F, MOUGAN, I

“…Generalized peroxisomal disorders are severe congenital diseases that involve the central nervous system, leading to severe psychomotor retardation,…”
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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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Slow segregation and rapid shift to homoplasmy coexist in a family with the T8993>G mutation by Martín, M. A., Campos, Y., García‐Silva, M. T., Rubio, J. C., Del Hoyo, P., Bustos, F., García, A., Arenas, J.

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Medium‐chain acyl‐CoA dehydrogenase deficiency in Spain by Martínez, G., Ribes, A., Briones, P., Rodés, M., Baldellou, A., Pineda, M., Rodrigo, C., Lorente, I., García‐Silva, M. T., Riudor, E., Jaraba, P., Lopez‐Casas, J., Nuñez‐Roldan, A.

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Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria by García-Silva, M.Teresa, Ribes, Antonia, Campos, Yolanda, Garavaglia, Barbara, Arenas, Joaquin

“…We report a boy 20 months of age with encephalopathy, petechiae, and ethylmalonic aciduria (EPEMA). Other clinical features were severe hypotonia, orthostatic…”
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Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) by Richard, Eva, Jorge-Finnigan, Ana, Garcia-Villoria, Judit, Merinero, Begoña, Desviat, Lourdes R, Gort, Laura, Briones, Paz, Leal, Fátima, Pérez-Cerdá, Celia, Ribes, Antonia, Ugarte, Magdalena, Pérez, Belén

“…Methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) is the most frequent genetic disorder of vitamin B₁₂ metabolism…”
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New neurometabolic disorders: indicative clinical signs by García-Silva, M T

“…Three groups of disorders are reviewed: the syndromes with carbohydrate deficient glycoproteins, congenital errors of metabolism involving purines and…”
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