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Browsing by Author Rodríguez-Pombo, Pilar

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Showing results 1 to 9 of 9
RightsPreviewIssue DateTitleAuthor(s)Type
openAccessDesviatLR_AlteredRedoxHomeostasis.pdf.jpg20-Mar-2018Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and HomocystinuriaRichard, Eva ; Gallego-Villar, Lorena ; Rivera-Barahona, Ana ; Oyarzábal, Alfonso ; Pérez, Belén ; Rodríguez-Pombo, Pilar ; 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
openAccessRodríguez-PomboP_GeneticPhenotypic.pdf.jpg2017Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological DiseaseRice, Gillian I; Rodríguez-Pombo, Pilar ; Crow, Yanick J.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.jpg2012Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic diseasePérez, Belén ; Rodríguez-Pombo, Pilar ; Ugarte, Magdalena ; Desviat, Lourdes R. artículo
closedAccessFeb-2001The molecular basis of 3-methylcrotonylglycinuria, a disorder of the leucine catabolismGallardo, M. Esther ; Desviat, Lourdes R. ; Rodríguez, José M.; Esparza-Gordillo, Jorge; Pérez-Cerdá, Celia; Pérez, Belén ; Rodríguez-Pombo, Pilar ; Navarrete, Olga; Sanz, Raúl; Morton, D.Holmes; Criado-García, Olga ; Gibson, K.Michael; Le, Thuy P.; Ribes, Antonia; Rodríguez de Córdoba, Santiago ; Ugarte, Magdalena ; Peñalva, Miguel Ángel artículo
openAccess13023_2014_Article_779.pdf.jpg23-Jun-2014Thiamine transporter-2 deficiency: outcome and treatment monitoringOrtigoza-Escobar, Juan Darío; Serrano, Mercedes; Molero, Marta; Oyarzábal, Alfonso ; Rebollo, Mónica; Muchart, J.; Artuch, Rafael; Rodríguez-Pombo, Pilar ; Pérez-Dueñas, Belén artículo
closedAccessaccesoRestringido.pdf.jpg2012Wernicke-like encephalopathy during classic maple syrup urine disease decompensationManara, Renzo; Rizzo, Mónica del; Burlina, A. P.; Bordugo, A.; Citton, V.; Rodríguez-Pombo, Pilar ; Ugarte, Magdalena ; Burlina, A. B.artículo