Search Results - "Pedrón Giner, Consuelo"

Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia by Gallego, Diana, Leal, Fátima, Gámez, Alejandra, Castro, Margarita, Navarrete, Rosa, Sanchez‐Lijarcio, Obdulia, Vitoria, Isidro, Bueno‐Delgado, María, Belanger‐Quintana, Amaya, Morais, Ana, Pedrón‐Giner, Consuelo, García, Inmaculada, Campistol, Jaume, Artuch, Rafael, Alcaide, Carlos, Cornejo, Veronica, Gil, David, Yahyaoui, Raquel, Desviat, Lourdes R., Ugarte, Magdalena, Martínez, Aurora, Pérez, Belén

“…Biallelic variants of the gene DNAJC12, which encodes a cochaperone, were recently described in patients with hyperphenylalaninemia (HPA). This paper reports…”
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Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy by Bravo‐Alonso, Irene, Morin, Matías, Arribas‐Carreira, Laura, Álvarez, Mar, Pedrón‐Giner, Consuelo, Soletto, Lucia, Santolaria, Carlos, Ramón‐Maiques, Santiago, Ugarte, Magdalena, Rodríguez‐Pombo, Pilar, Ariño, Joaquín, Moreno‐Pelayo, Miguel Ángel, Pérez, Belén

“…Coenzyme A (CoA) is an essential cofactor involved in a range of metabolic pathways including the activation of long‐chain fatty acids for catabolism. Cells…”
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Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: data from the E‐HOD registry by Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A., Seifert, Burkhardt, Froese, D. Sean, Baumgartner, Matthias R., Dionisi‐Vici, Carlo, Martin, Carlos Alcalde, Baethmann, Martina, Ballhausen, Diana, Blasco‐Alonso, Javier, Boy, Nikolas, Bueno, Maria, Burgos Peláez, Rosa, Cerone, Roberto, Chabrol, Brigitte, Chapman, Kimberly A., Couce, Maria Luz, Crushell, Ellen, Dalmau Serra, Jaime, Diogo, Luisa, Ficicioglu, Can, García Jimenez, Maria Concepcion, García Silva, Maria Teresa, Gaspar, Ana, Gautschi, Matthias, González‐Lamuño, Domingo, Gouveia, Sofia, Grünewald, Stephanie, Hendriksz, Chris, Janssen, Mirian C. H., Jesina, Pavel, Koch, Johannes, Konstantopoulou, Vassiliki, Lavigne, Christian, Lund, Allan M., Martins, Esmeralda G., Meavilla Olivas, Silvia, Mention, Karine, Mochel, Fanny, Mundy, Helen, Murphy, Elaine, Paquay, Stephanie, Pedrón‐Giner, Consuelo, Ruiz Gómez, Maria Angeles, Santra, Saikat, Schiff, Manuel, Schwartz, Ida Vanessa, Scholl‐Bürgi, Sabine, Servais, Aude, Skouma, Anastasia, Tran, Christel, Vives Piñera, Inmaculada, Walter, John, Weisfeld‐Adams, James

“…© 2018 SSIEM Aim: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the…”
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Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases by Ruiz Herrero, Jana, Cañedo Villarroya, Elvira, González Gutiérrez-Solana, Luis, García Alcolea, Beatriz, Gómez Fernández, Begoña, Puerta Macfarland, Laura Andrea, Pedrón-Giner, Consuelo

“…Glucose transporter type 1 deficiency syndrome (GLUT1DS) is caused by mutations in the SLC2A1 gene and produces seizures, neurodevelopmental impairment, and…”
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Nutrition Risk in Hospitalized Pediatric Patients: Higher Complication Rate and Higher Costs Related to Malnutrition by Gambra‐Arzoz, Marta, Alonso‐Cadenas, José Antonio, Jiménez‐Legido, María, López‐Giménez, M. Rosario, Martín‐Rivada, Álvaro, Martínez‐Ibeas, María, Cañedo‐Villarroya, Elvira, Pedrón‐Giner, Consuelo

“…Background Hospitalized children present higher rates of undernutrition. Malnutrition can lead to a more complex hospitalization process with an increased…”
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Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients by Bélanger-Quintana, Amaya, Arrieta Blanco, Francisco, Barrio-Carreras, Delia, Bergua Martínez, Ana, Cañedo Villarroya, Elvira, García-Silva, María Teresa, Lama More, Rosa, Martín-Hernández, Elena, López, Ana Moráis, Morales-Conejo, Montserrat, Pedrón-Giner, Consuelo, Quijada-Fraile, Pilar, Stanescu, Sinziana, Casanova, Mercedes Martínez-Pardo

“…Hyperammonaemia is a metabolic derangement that may cause severe neurological damage and even death due to cerebral oedema, further complicating the prognosis…”
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Transcriptomic profile of epileptic children treated with ketogenic therapies by Ruiz-Herrero, Jana, Olaso-Gonzalez, Gloria, Serna, Eva, Cañedo-Villarroya, Elvira, Correas, Angela G, Gambini, Juan, Gomez-Cabrera, Mari Carmen, Pedrón-Giner, Consuelo, Vina, Jose

“…: Ketogenic dietary therapies (KDT) are used as a treatment in childhood epilepsy. However, their mechanism has not yet been established. The main objective of…”
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Nutritional Outcome in Home Gastrostomy-Fed Children with Chronic Diseases by Martínez-Costa, Cecilia, Calderón, Caterina, Gómez-López, Lilianne, Borraz, Soraya, Crehuá-Gaudiza, Elena, Pedrón-Giner, Consuelo

“…The aim of the study was to assess the anthropometric outcomes after gastrostomy tube (GT) placement in children with chronic diseases and the influence of…”
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Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region by Martín‐Rivada, Álvaro, Palomino Pérez, Laura, Ruiz‐Sala, Pedro, Navarrete, Rosa, Cambra Conejero, Ana, Quijada Fraile, Pilar, Moráis López, Ana, Belanger‐Quintana, Amaya, Martín‐Hernández, Elena, Bellusci, Marcello, Cañedo Villaroya, Elvira, Chumillas Calzada, Silvia, García Silva, María Teresa, Bergua Martínez, Ana, Stanescu, Sinziana, Martínez‐Pardo Casanova, Mercedes, Ruano, Miguel L. F., Ugarte, Magdalena, Pérez, Belén, Pedrón‐Giner, Consuelo

“…We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our…”
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Use of carglumic acid in valproate‐induced hyperammonemia: 25 pediatric cases by Palomino Pérez, Laura María, Martín‐Rivada, Álvaro, Cañedo Villaroya, Elvira, García‐Peñas, Juan José, Cuervas‐Mons Vendrell, Margarita, Pedrón‐Giner, Consuelo

“…Hyperammonemic encephalopathy is a rare but potentially dangerous complication of the antiepileptic drug (AED) sodium valproate (VPA). We report a…”
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Satisfaction with gastrostomy feeding in caregivers of children with home enteral nutrition; application of the SAGA-8 questionnaire and analysis of involved factors by Martínez-Costa, Cecilia, Calderón, Caterina, Gómez-López, Lilianne, Borraz, Soraya, Pedrón-Giner, Consuelo

“…To assess the degree of satisfaction of caregivers of children with gastrostomy tube (GT) feeding through the structured questionnaire SAGA-8. Secondly, to…”
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Efficacy and safety of ketogenic dietary theraphies in infancy. A single-center experience in 42 infants less than two years of age by Ruiz-Herrero, Jana, Cañedo-Villarroya, Elvira, Pérez-Sebastián, Isabel, Bernardino-Cuesta, Beatriz, Pedrón-Giner, Consuelo

“…•The onset of epilepsy in infancy is associated with intractability and mortality.•Ketogenic dietary therapies are effective and safe treatments for…”
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Malnutrition in children with ichthyosis: Recommendations for monitoring from a multidisciplinary clinic experience by Rodríguez-Manchón, Silvia, Pedrón-Giner, Consuelo, Cañedo-Villarroya, Elvira, Muñoz-Codoceo, Rosa Ana, Hernández-Martín, Ángela

“…Short stature has been reported in congenital ichthyoses (CI), but few data exist on patients' nutritional status. To describe the nutritional status at the…”
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Controlling carbohydrate content in antiepileptic medications for children on a ketogenic diet by Martín Prado, Silvia, Pozas Del Río, Maite, Cañedo Villarroya, Elvira, Pedrón Giner, Consuelo

“…patients who follow a ketogenic diet for the control of epileptic seizures must carry out a strict control of carbohydrates from the foods they eat and the…”
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Vitamin C and folate status in hereditary fructose intolerance by Cano, Ainara, Alcalde, Carlos, Belanger-Quintana, Amaya, Cañedo-Villarroya, Elvira, Ceberio, Leticia, Chumillas-Calzada, Silvia, Correcher, Patricia, Couce, María Luz, García-Arenas, Dolores, Gómez, Igor, Hernández, Tomás, Izquierdo-García, Elsa, Chicano, Dámaris Martínez, Morales, Montserrat, Pedrón-Giner, Consuelo, Jáuregui, Estrella Petrina, Peña-Quintana, Luis, Sánchez-Pintos, Paula, Serrano-Nieto, Juliana, Suarez, María Unceta, Miñana, Isidro Vitoria, de las Heras, Javier

“…Background Hereditary fructose intolerance (HFI) is a rare inborn error of fructose metabolism caused by the deficiency of aldolase B. Since treatment consists…”
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Validity and Reliability of a Nutritional Screening Tool (SCAN) in Children Newly Diagnosed with Cancer by Cañedo, Gustavo, Palomino Pérez, Laura María, Puerta Macfarland, Laura Andrea, Ruano Dominguez, David, Cañedo-Villaroya, Elvira, Garcia Alcolea, Beatriz, Madero López, Luis, Pedrón-Giner, Consuelo

“…No standardized approach towards nutritional screening and assessment of pediatric oncology patients has been established. The nutrition screening tool for…”
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Safety and Effectiveness of the Prolonged Treatment of Children with a Ketogenic Diet by Ruiz Herrero, Jana, Cañedo Villarroya, Elvira, García Peñas, Juan José, García Alcolea, Beatriz, Gómez Fernández, Begoña, Puerta Macfarland, Laura Andrea, Pedrón Giner, Consuelo

“…The ketogenic diet (KD) is an effective treatment against drug-resistant epilepsy in children. The KD is a diet rich in fats that produces anticonvulsant and…”
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Ketogenic dietary therapies for epilepsy: Experience in 160 patients over 18 years by Ruiz Herrero, Jana, Cañedo Villarroya, Elvira, García Peñas, Juan José, García Alcolea, Beatriz, Gómez Fernández, Begoña, Puerta Macfarland, Laura Andrea, Pedrón-Giner, Consuelo

“…Ketogenic dietary therapies (KDT) produce anticonvulsant and neuroprotective effects, reduce seizures and improve the cognitive state in patients with…”
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Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program by Navarrete, Rosa, Leal, Fátima, Vega, Ana I, Morais-López, Ana, Garcia-Silva, María Teresa, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Bergua, Ana, Vives, Inmaculada, García-Jiménez, Inmaculada, Yahyaoui, Raquel, Pedrón-Giner, Consuelo, Belanger-Quintana, Amaya, Stanescu, Sinziana, Cañedo, Elvira, García-Campos, Oscar, Bueno-Delgado, María, Delgado-Pecellín, Carmen, Vitoria, Isidro, Rausell, María Dolores, Balmaseda, Elena, Couce, Mari Luz, Desviat, Lourdes R, Merinero, Begoña, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerdá, Celia, Pérez, Belén

“…The present work describes the value of genetic analysis as a confirmatory measure following the detection of suspected inborn errors of metabolism in the…”
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Prospective validation of the nutrition screening tool for childhood cancer (SCAN) by de Oliveira Canedo, Gustavo, Palomino Pérez, Laura María, Puerta Macfarland, Laura Andrea, Ruano Dominguez, David, Cañedo-Villaroya, Elvira, Garcia Alcolea, Beatriz, Madero López, Luis, Pedrón-Giner, Consuelo

“…Different nutritional screening tools have been proposed in childhood cancer, but none has shown convincing predictive capacity so far. The “nutrition…”
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