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Browsing by Author Merinero, Begoña

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Showing results 1 to 9 of 9
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closedAccessaccesoRestringido.pdf.jpg2013A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine DiseaseOyarzábal, Alfonso ; Martínez Pardo, Mercedes; Merinero, Begoña ; Navarrete, Rosa; Desviat, Lourdes R. artículo
openAccessRejasMT_DatasetReportingBCKDKInterferenceInaBCAA.pdf.jpg15-Mar-2016Dataset reporting BCKDK interference in a BCAA-catabolism restricted environmentBravo-Alonso, I; Oyarzábal, Alfonso ; Sánchez-Aragó, María ; Rejas, M. Teresa ; Merinero, Begoña ; García-Cazorla, Angels; Artuch, Rafael; Ugarte, Magdalena ; Rodríguez-Pombo, Pilar artículo
openAccessPérezB_GenerationAndCharactization.pdf.jpg5-Apr-2018Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB typeRichard, Eva ; Brasil, Sandra ; Briso-Montiano, Alvaro; Alonso-Barroso, Esmeralda; Gallardo, M. Esther ; Merinero, Begoña ; Ugarte, Magdalena ; Desviat, Lourdes R. ; Pérez, Belén artículo
openAccessimproving_deseases_2018.pdf.jpg24-Jul-2018Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variantsBrasil, Sandra ; Leal, Fátima ; Vega, Ana; Navarrete, Rosa; Ecay, María J.; Desviat, Lourdes R. ; Riera, Casandra; Padilla, Natàlia; de la Cruz, Xavier; Couce, Mari L.; Martin-Hernández, Elena; Morais, Ana; Pedrón, Consuelo; Peña-Quintana, Luis; Rigoldi, Miriam; Specola, Norma; de Almeida, Isabel T.; Vives, Inmaculada; Yahyaoui, Raquel; Rodríguez-Pombo, Pilar ; Ugarte, Magdalena ; Pérez-Cerda, Celia; Merinero, Begoña ; Pérez, Belén artículo
openAccessPérezB_ImprovingTheDiagnosis.pdf.jpg2018Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variantsBrasil, Sandra ; Leal, Fátima ; Vega, Ana; Navarrete, Rosa; Ecay, María J.; Desviat, Lourdes R. ; Rodríguez-Pombo, Pilar ; Ugarte, Magdalena ; Pérez-Cerdá, Celia; Merinero, Begoña ; Pérez, Belén artículo
closedAccessaccesoRestringido.pdf.jpg2010Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic archRivera, Henry; Merinero, Begoña ; Ruiz-Sala, Pedro; Bornstein, Belén ; Gallardo, M. Esther ; Garesse, Rafael ; Ugarte, Magdalena ; Martín, Miguel A.artículo
openAccessPérezB_MethylmalonicAciduriaCBIB.pdf.jpg2015Methylmalonic aciduria cblB type: Characterization of two novel mutations and mitochondrial dysfunction studiesBrasil, Sandra ; Richard, Eva ; Jorge-Finnigan, A.; Leal, Fátima ; Merinero, Begoña ; Banerjee, R.; Desviat, Lourdes R. ; Ugarte, Magdalena ; Pérez, Belén artículo
closedAccessaccesoRestringido.pdf.jpgMay-2010Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.Morán, María José; Rivera, Henry; Sánchez-Aragó, María ; Blázquez, Alberto; Merinero, Begoña ; Ugalde, Cristina; Arenas, Joaquín; Cuezva, José M. ; Martín, Miguel A.artículo
closedAccessaccesoRestringido.pdf.jpg2012Novel features in the evolution of adenylosuccinate lyase deficiencyPérez-Dueñas, Belén ; Sempere, Ángela; Campistol, Jaume; Alonso-Colmenero, Itziar; Díez, María; González, Verónica ; Merinero, Begoña ; Desviat, Lourdes R. ; Artuch, Rafaelartículo