Search Results - "Bueno, María A"

Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain by Bueno, María A, González-Lamuño, Domingo, Delgado-Pecellín, Carmen, Aldámiz-Echevarría, Luís, Pérez, Belén, Desviat, Lourdes R, Couce, María L

“…The aim of this study was to identify the most common genotypes in the phenylketonuria (PKU) population of Andalusia, assessing the correlation with the…”
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Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria by Andrade, Fernando, Villate, Olatz, Couce, María L., Bueno, María A., Alcalde, Carlos, de las Heras, Javier, Ceberio, Leticia, Núñez-Marcos, Sergio, Nambo, Pablo Suárez, Aldámiz-Echevarría, Luis

“…Phenylketonuria’s (PKU) treatment based on low-protein diet may affect other metabolic pathways, such as that of asymmetric dimethylarginine (ADMA). The aim of…”
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Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients by Aldámiz-Echevarría, Luis, Bueno, María A, Couce, María L, Lage, Sergio, Dalmau, Jaime, Vitoria, Isidro, Andrade, Fernando, Blasco, Javier, Alcalde, Carlos, Gil, David, García, María C, González-Lamuño, Domingo, Ruiz, Mónica, Peña-Quintana, Luis, Ruiz, María A, González, David, Sánchez-Valverde, Felix

“…Summary Background & aims Treating phenylketonuria based upon strict vegetarian diets has occasionally been found to hamper physical development, some patients…”
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New evidence for assessing tetrahydrobiopterin (BH4 ) responsiveness by Bueno, María A, Lage, Sergio, Delgado, Carmen, Andrade, Fernando, Couce, María L, González-Lamuño, Domingo, Pérez, Manuel, Aldámiz-Echevarría, Luis

“…Abstract Objective To evaluate the protocol we propose for detecting BH4 -responsive patients and the possibility of delimiting more precisely the population…”
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Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU by Aldámiz-Echevarría, Luis, Bueno, María A., Couce, María L., Lage, Sergio, Dalmau, Jaime, Vitoria, Isidro, Andrade, Fernando, Llarena, Marta, Blasco, Javier, Alcalde, Carlos, Gil, David, García, María C., González-Lamuño, Domingo, Ruiz, Mónica, Ruiz, María A., González, David, Sánchez-Valverde, Felix

“…Treatment of phenylketonuria based upon strict vegetarian diets, with very low phenylalanine intake and supplemented by phenylalanine-free formula, has proven…”
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Relation of body composition indexes to cardiovascular disease risk factors in young adults by Kammar-García, A, Hernández-Hernández, M. Elena, López-Moreno, P, Ortíz-Bueno, A. María, Martínez-Montaño, M. de Lurdez

“…Abstract Background To evaluate the relationship of body composition indexes with altered metabolic analytical parameters that show higher risk of…”
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Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia by Couce, María L, Aldamiz-Echevarría, Luís, Bueno, María A, Barros, Patricia, Belanger-Quintana, Amaya, Blasco, Javier, García-Silva, María-Teresa, Márquez-Armenteros, Ana M, Vitoria, Isidro, Vives, Inmaculada, Navarrete, Rosa, Fernández-Marmiesse, Ana, Pérez, Belén, Pérez-Cerdá, Celia

“…Isovaleric acidemia (IVA) is a rare disorder of leucine metabolism. We carried out a multicenter study of IVA patients diagnosed by newborn screening (NBS) or…”
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Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria by Aldámiz-Echevarría, Luis, Llarena, Marta, Bueno, María A, Dalmau, Jaime, Vitoria, Isidro, Fernández-Marmiesse, Ana, Andrade, Fernando, Blasco, Javier, Alcalde, Carlos, Gil, David, García, María C, González-Lamuño, Domingo, Ruiz, Mónica, Ruiz, María A, Peña-Quintana, Luis, González, David, Sánchez-Valverde, Felix, Desviat, Lourdes R, Pérez, Belen, Couce, María L

“…Phenylketonuria (PKU), the most common inborn error of amino acid metabolism, is caused by mutations in the phenylalanine-4-hydroxylase (PAH) gene. This study…”
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Corrigendum to “Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU” [Mol. Genet. Metab. 109 (2013) 331–338] by Aldámiz-Echevarría, Luis, Bueno, María A., Couce, María L., Lage, Sergio, Dalmau, Jaime, Vitoria, Isidro, Andrade, Fernando, Llarena, Marta, Blasco, Javier, Alcalde, Carlos, Gil, David, García, María C., González-Lamuño, Domingo, Ruiz, Mónica, Ruiz, María A., González, David, Sánchez-Valverde, Felix

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Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia by Dios-Fuentes, Elena, Gonzalo Marin, Montserrat, Remón-Ruiz, Pablo, Benitez Avila, Rosa, Bueno Delgado, Maria A, Blasco Alonso, Javier, Doulatram Gamgaram, Viyei Kishore, Olveira, Gabriel, Soto-Moreno, Alfonso, Venegas-Moreno, Eva

“…The establishment of national neonatal screening systems has resulted in improved quality of life and life expectancy in patients with phenylketonuria (PKU)…”
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Changes in pectins and MAPKs related to cell development during early microspore embryogenesis in Quercus suber L by Ramírez, Carmen, Testillano, Pilar S., Pintos, Beatriz, Moreno-Risueño, Miguel A., Bueno, María A., Risueño, María C.

“…The occurrence and significance of changes in cell wall components and signalling molecules has been investigated during early microspore embryogenesis in cork…”
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Antimitotic agents increase the production of doubled-haploid embryos from cork oak anther culture by Pintos, Beatriz, Manzanera, Jose A., Bueno, Maria A.

“…The objective of this study is to induce the nuclear DNA duplication of anther-derived embryos of cork oak ( Quercus suber L.) to obtain doubled-haploid…”
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6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype by Aldámiz-Echevarría, Luis, Bueno, María A, Couce, María L, Lage, Sergio, Dalmau, Jaime, Vitoria, Isidro, Llarena, Marta, Andrade, Fernando, Blasco, Javier, Alcalde, Carlos, Gil, David, García, María C, González-Lamuño, Domingo, Ruiz, Mónica, Ruiz, María A, Peña-Quintana, Luis, González, David, Sánchez-Valverde, Felix

“…Phenylalanine-restricted diets have proven effective in treating phenylketonuria. However, such diets have occasionally been reported to hinder normal…”
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6R-tetrahydrobiopterin treated PKU patients below 4years of age: Physical outcomes, nutrition and genotype by Aldámiz-Echevarría, Luis, Bueno, María A., Couce, María L., Lage, Sergio, Dalmau, Jaime, Vitoria, Isidro, Llarena, Marta, Andrade, Fernando, Blasco, Javier, Alcalde, Carlos, Gil, David, García, María C., González-Lamuño, Domingo, Ruiz, Mónica, Ruiz, María A., Peña-Quintana, Luis, González, David, Sánchez-Valverde, Felix

“…Phenylalanine-restricted diets have proven effective in treating phenylketonuria. However, such diets have occasionally been reported to hinder normal…”
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Microspore-derived embryos from Quercus suber anthers mimic zygotic embryos and maintain haploidy in long-term anther culture by Bueno, M.A, Gomez, A, Sepulveda, F, Segui, J.M, Testillano, P.S, Manzanera, J.A, Risueno, M.C

“…Microspore-derived embryos produced from cork oak anther cultures after long-term incubations (up to 10-12 months) were analysed in order to determine the…”
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Molecular epidemiology, genotype-phenotype correlation and BH sub(4) responsiveness in Spanish patients with phenylketonuria by Aldamiz-Echevarria, Luis, Llarena, Marta, Bueno, Maria A, Dalmau, Jaime, Vitoria, Isidro, Fernandez-Marmiesse, Ana, Andrade, Fernando, Blasco, Javier, Alcalde, Carlos, Gil, David, Garcia, Maria C, Gonzalez-Lamuno, Domingo, Ruiz, Monica, Ruiz, Maria A, Pena-Quintana, Luis, Gonzalez, David, Sanchez-Valverde, Felix, Desviat, Lourdes R, Perez, Belen, Couce, Maria L

“…Phenylketonuria (PKU), the most common inborn error of amino acid metabolism, is caused by mutations in the phenylalanine-4-hydroxylase (PAH) gene. This study…”
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Newborn screening for homocystinurias: Recent recommendations versus current practice by Keller, Rebecca, Chrastina, Petr, Pavlíková, Markéta, Gouveia, Sofía, Ribes, Antonia, Kölker, Stefan, Blom, Henk J., Baumgartner, Matthias R., Bártl, Josef, Dionisi‐Vici, Carlo, Gleich, Florian, Morris, Andrew A., Kožich, Viktor, Huemer, Martina, Barić, Ivo, Ben‐Omran, Tawfeq, Blasco‐Alonso, Javier, Bueno Delgado, Maria A., Carducci, Claudia, Cassanello, Michela, Cerone, Roberto, Couce, Maria Luz, Crushell, Ellen, Delgado Pecellin, Carmen, Dulin, Elena, Espada, Mercedes, Ferino, Giulio, Fingerhut, Ralph, Garcia Jimenez, Immaculada, Gonzalez Gallego, Immaculada, González‐Irazabal, Yolanda, Gramer, Gwendolyn, Juan Fita, Maria Jesus, Karg, Eszter, Klein, Jeanette, Konstantopoulou, Vassiliki, la Marca, Giancarlo, Leão Teles, Elisa, Leuzzi, Vincenzo, Lilliu, Franco, Lopez, Rosa Maria, Lund, Allan M., Mayne, Philip, Meavilla, Silvia, Moat, Stuart J., Okun, Jürgen G., Pasquini, Elisabeta, Pedron‐Giner, Consuélo Carmen, Racz, Gabor Zoltan, Ruiz Gomez, Maria Angeles, Vilarinho, Laura, Yahyaoui, Raquel, Zerjav Tansek, Moja, Zetterström, Rolf H., Zeyda, Maximilian

“…Purpose To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. Methods Twenty‐two of 32 NBS…”
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Microspore-derived embryos fromQuercus suberanthers mimic zygotic embryos and maintain haploidy in long-term anther culture by Bueno, Maria A., Gomez, Arancha, Sepulveda, Federico, Seguí, José M., Testillano, Pilar S., Manzanera, José A., Risueño, Maria-Carmen

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Microspore-derived embryos from Quercus suberanthers mimic zygotic embryos and maintain haploidy in long-term anther culture by Bueno, Maria A., Gomez, Arancha, Sepulveda, Federico, Seguí, José M., Testillano, Pilar S., Manzanera, José A., Risueño, Maria-Carmen

“…Microspore-derived embryos produced from cork oak anther cultures after long-term incubations (up to 10-12 months) were analysed in order to determine the…”
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