Search Results - "García Silva, M"

Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain by Medrano, Celia, Vega, Ana, Navarrete, Rosa, Ecay, M. Jesús, Calvo, Rocío, Pascual, Samuel Ignacio, Ruiz‐Pons, Mónica, Toledo, Laura, García‐Jiménez, Inmaculada, Arroyo, Ignacio, Campo, Andrea, Couce, M. Luz, Domingo‐Jiménez, M. Rosario, García‐Silva, M. Teresa, González‐Gutiérrez‐Solana, Luis, Hierro, Loreto, Martín‐Hernández, Elena, Martínez‐Pardo, Mercedes, Roldán, Susana, Tomás, Miguel, Cabrera, Jose C., Mártinez‐Bugallo, Francisco, Martín‐Viota, Lucía, Vitoria‐Miñana, Isidro, Lefeber, Dirk J., Girós, M. Luisa, Serrano Gimare, Mercedes, Ugarte, Magdalena, Pérez, Belén, Pérez‐Cerdá, Celia

“…The congenital disorders of glycosylation (CDG) are defects in glycoprotein and glycolipid glycan synthesis and attachment. They affect multiple organ/systems,…”
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Parvifoline Derivatives as Tubulin Polymerization Inhibitors by Silva-García, Edna M, Cerda-García-Rojas, Carlos M, del Río, Rosa E, Joseph-Nathan, Pedro

“…A series of functionalized sesquiterpenoids derived from benzocyclooctene, including natural parvifoline (1), isoparvifoline (3), epoxyparvifoline (5),…”
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Apolipoprotein C-III Isofocusing in the Diagnosis of Genetic Defects in O-Glycan Biosynthesis by Wopereis, Suzan, Grunewald, Stephanie, Morava, Eva, Penzien, Johannes M, Briones, Paz, Garcia-Silva, M. Teresa, Demacker, Pierre N.M, Huijben, Karin M.L.C, Wevers, Ron A

“…Defects in the biosynthesis of N-glycans may be found by isoelectric focusing (IEF) of plasma transferrin. No test is available to demonstrate O-glycan…”
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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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Renal pathology in children with mitochondrial diseases by Martín-Hernández, Elena, García-Silva, M Teresa, Vara, Julia, Campos, Yolanda, Cabello, Ana, Muley, Rafael, Del Hoyo, Pilar, Martín, Miguel Angel, Arenas, Joaquín

“…We studied renal involvement in 42 children with mitochondrial diseases (MDs). The diagnosis of MD was established by morphological, biochemical, and molecular…”
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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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Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies by Arredondo, Juan J, Gallardo, M Esther, García-Pavía, Pablo, Domingo, Verónica, Bretón, Begoña, García-Silva, M Teresa, Sedano, M Jesús, Martín, Miguel A, Arenas, Joaquín, Cervera, Margarita, Garesse, Rafael, Bornstein, Belén

“…The aim of this study was to identify the genetic defect in two patients having cardiac dysfunction accompanied by neurological symptoms, and in one case MRI…”
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Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency by Gil-Borlado, M Carmen, González-Hoyuela, Maritza, Blázquez, Alberto, García-Silva, M Teresa, Gabaldón, Toni, Manzanares, Javier, Vara, Julia, Martín, Miguel A, Seneca, Sara, Arenas, Joaquín, Ugalde, Cristina

“…Mutations in the assembly chaperone BCS1L constitute a major cause of mitochondrial complex III deficiency. We studied the presence of BCS1L mutations in a…”
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Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene by De Meirleir, Linda, Seneca, Sara, Damis, Eliane, Sepulchre, Brigitte, Hoorens, Anne, Gerlo, Erik, García Silva, M. Teres, Hernandez, Elena Martín, Lissens, Willy, Van Coster, Rudy

“…We investigated two siblings of a Spanish family presenting with congenital lactic acidosis. They had severe failure to thrive, liver dysfunction, and renal…”
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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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Substitution box generation using Chaos: An image encryption application by Silva-García, V.M., Flores-Carapia, R., Rentería-Márquez, C., Luna-Benoso, B., Aldape-Pérez, M.

“…There are procedures to encrypt images; however, sometimes there is a loss of information in the decryption process or the key set size is not specifically…”
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Understanding Mitochondrial Diseases by García-Silva, M.T, Arenas, J, Morán, M

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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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piRNA pathway evolution beyond gonad context: Perspectives from apicomplexa and trypanosomatids by Horjales, S, Li Calzi, M, Francia, M E, Cayota, A, Garcia-Silva, M R

“…piRNAs function as genome defense mechanisms against transposable elements insertions within germ line cells. Recent studies have unraveled that piRNA pathways…”
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PIWI pathway: bridging acute myeloid leukemia stemness and cellular differentiation by Garcia-Silva, M R, Márquez, M E, Pinello, N

“…PIWI proteins are stem cell-associated RNA-binding proteins crucial for survival of germ stem cells. In cancer, PIWI proteins are overexpressed. Specifically,…”
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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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Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease by Briones, Paz, Vilaseca, M Antonia, Garcı́a-Silva, M Teresa, Pineda, Mercé, Colomer, Jaume, Ferrer, Imma, Artigas, J, Jaeken, Jaak, Chabás, Amparo

“…Congenital disorders of glycosylation (CDG) and mitochondrial diseases are multisystem disorders with clinical characteristics that may overlap. We present…”
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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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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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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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