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Browsing by Author Rodríguez-Pombo, Pilar

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RightsPreviewIssue DateTitleAuthor(s)Type
openAccessDesviatLR_AlteredRedoxHomeostasis.pdf.jpg20-Mar-2018Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and HomocystinuriaRichard, Eva CSIC ORCID; Gallego-Villar, Lorena CSIC ORCID; Rivera-Barahona, Ana CSIC; Oyarzábal, Alfonso CSIC ORCID; Pérez, Belén; Rodríguez-Pombo, Pilar CSIC ORCID; Desviat, Lourdes R. CSIC ORCIDartículo
openAccessRejasMT_DatasetReportingBCKDKInterferenceInaBCAA.pdf.jpg15-Mar-2016Dataset reporting BCKDK interference in a BCAA-catabolism restricted environmentBravo-Alonso, I; Oyarzábal, Alfonso CSIC ORCID; Sánchez-Aragó, María CSIC; Rejas, M. Teresa CSIC ; Merinero, Begoña CSIC; García-Cazorla, Angels; Artuch, Rafael; Ugarte, Magdalena CSIC ORCID; Rodríguez-Pombo, Pilar CSIC ORCIDartículo
openAccessPérezB_GenerationandCharacterizationofaHuman.pdf.jpg16-Jul-2019Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC geneArribas-Carreira, Laura; Bravo-Alonso, Irene; López-Márquez, Arístides CSIC ORCID; Alonso-Barroso, Esmeralda; Briso-Montiano, Alvaro; Arroyo, Ignacio; Ugarte, Magdalena CSIC ORCID; Pérez, Belén; Pérez-Cerdá, Celia; Rodríguez-Pombo, Pilar CSIC ORCID; Richard, Eva CSIC ORCIDartículo
openAccessgenes_lactic_acidosis_personalized_treatment.pdf.jpg1-Nov-2019Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatmentBravo-Alonso, Irene; Navarrete, Rosa; Vega, Ana Isabel; Ruíz-Sala, Pedro; García Silva, María Teresa; Martín-Hernández, Elena; Quijada-Fraile, Pilar; Belanger-Quintana, Amaya; Stanescu, Sinziana; Bueno, María; Vitoria, Isidro; Toledo, Laura; Couce, María Luz; García-Jiménez, Inmaculada; Ramos-Ruiz, Ricardo; Martín, Miguel Ángel; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ORCID; Pérez-Cerdá, Celia; Merinero, Begoña CSIC; Pérez, Belén; Rodríguez-Pombo, Pilar CSIC ORCIDartículo
openAccessRodríguez-PomboP_GeneticPhenotypic.pdf.jpg2017Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological DiseaseRice, Gillian I; Rodríguez-Pombo, Pilar CSIC ORCID; 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 ORCID; Leal, Fátima; Vega, Ana; Navarrete, Rosa; Ecay, María J.; Desviat, Lourdes R. CSIC ORCID; 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 CSIC ORCID; Ugarte, Magdalena CSIC ORCID; Pérez-Cerdá, Celia; Merinero, Begoña CSIC; Pérez, Belénartículo
closedAccessaccesoRestringido.pdf.jpg2012Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic diseasePérez, Belén; Rodríguez-Pombo, Pilar CSIC ORCID; Ugarte, Magdalena CSIC ORCID; Desviat, Lourdes R. CSIC ORCIDartículo
closedAccessFeb-2001The molecular basis of 3-methylcrotonylglycinuria, a disorder of the leucine catabolismGallardo, M. Esther CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Rodríguez, José M.; Esparza-Gordillo, Jorge; Pérez-Cerdá, Celia; Pérez, Belén; Rodríguez-Pombo, Pilar CSIC ORCID; Navarrete, Olga; Sanz, Raúl; Morton, D.Holmes; Criado-García, Olga CSIC ; Gibson, K.Michael; Le, Thuy P.; Ribes, Antonia; Rodríguez de Córdoba, Santiago CSIC ORCID ; Ugarte, Magdalena CSIC ORCID; Peñalva, Miguel Ángel CSIC ORCID 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 CSIC ORCID; Rebollo, Mónica; Muchart, J.; Artuch, Rafael; Rodríguez-Pombo, Pilar CSIC ORCID; Pérez-Dueñas, Belénartículo
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 CSIC ORCID; Ugarte, Magdalena CSIC ORCID; Burlina, A. B.artículo