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openAccessLourdesRDesviat_A SensitiveAssay.pdf.jpg16-Sep-2014A sensitive assay system to test antisense oligonucleotides for splice suppression therapy in the mouse liverGallego-Villar, Lorena ; Viecelli, Hiu Man; Pérez, Belén ; Harding, Cary O; Ugarte, Magdalena ; Thöny, Beat; Desviat, Lourdes R. artículo
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
closedAccessaccesoRestringido.pdf.jpg2013cblE-type homocystinuria presenting with features of haemolytic-uremic syndrome in the newborn periodPalanca, Daniel; García-Cazorla, Angels; Ortiz, Jessica; Jou, Cristina; Cusí, Victoria; Suñol, Mariona; Toll, Teresa; Pérez, Belén ; Ormazabal, Aida; Fowler, Brian; Artuch, Rafaelartículo
closedAccessaccesoRestringido.pdf.jpg2013Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiencyTondo, Mireia; Calpena, Eduardo ; Arriola, Gema; Sanz, Paloma ; Martorell, Loreto; Ormazabal, Aida; Castejón, Esperanza; Ugarte, Magdalena ; Espinos, Carmen; Pérez, Belén ; Pérez-Dueñas, Belén ; Artuch, Rafaelartículo
openAccessPérezB_DataInSupportOfAFunctional.pdf.jpg28-Oct-2015Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS IIMatos, Liliana; GonÇalves, Vânia; Pinto, Eugénia; Laranjeira, Francisco; Prata, Maria João; Jordan, Peter; Desviat, Lourdes R. ; Pérez, Belén ; Alves, Sandraartículo
openAccessPérezB_DPAGTI-CDGFunctionalAnalysis.pdf.jpg29-Jun-2017DPAGT1-CDG: Functional analysis of diseasecausing pathogenic mutations and role of endoplasmic reticulum stressYuste-Checa, Patricia ; Vega, Ana I.; Martín-Higueras, Cristina; Medrano, Celia; Gámez, Alejandra ; Desviat, Lourdes R. ; Ugarte, Magdalena ; Pérez-Cerdá, Celia; Pérez, Belén artículo
closedAccessaccesoRestringido.pdf.jpg2012DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotypeArroyo Carrera, Ignacio; Matthijs, Gert; Pérez, Belén ; Pérez Cerdá, Ceciliaartículo
openAccessDesviatLR_DysregulatedmiRNAsAndTheirPathogenic.pdf.jpg18-Jul-2017Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemiaRivera-Barahona, Ana ; Fulgencio-Covián, Alejandro; Pérez-Cerdá, Celia; Ramos, Ricardo; Barry, Michael A; Ugarte, Magdalena ; Pérez, Belén ; Richard, Eva ; Desviat, Lourdes R. artículo
openAccessRichardE_EndoplasmicReticulumStress.pdf.jpg9-Mar-2016Endoplasmic reticulum stress and autophagy in homocystinuria patients with remethylation defectsMartínez-Pizarro, Ainhoa; Desviat, Lourdes R. ; Ugarte, Magdalena ; Pérez, Belén ; Richard, Eva artículo
closedAccessaccesoRestringido.pdf.jpg2012Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemiaSánchez-Alcudia, Rocío ; Pérez, Belén ; Ugarte, Magdalena ; Desviat, Lourdes R. artículo
openAccessPérezB_FunctionalAnalysisOfSplicing.pdf.jpg2015Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS IIMatos, Liliana; GonÇalves, Vânia; Pinto, Eugénia; Laranjeira, Francisco; Prata, Maria João; Jordan, Peter; Desviat, Lourdes R. ; Pérez, Belén ; Alves, Sandraartículo
closedAccessaccesoRestringido.pdf.jpg2012Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemiaGallego-Villar, Lorena ; Pérez Cerdá, Cecilia; Pérez, Belén ; Abia, David ; Ugarte, Magdalena ; Richard, Eva ; Desviat, Lourdes R. artículo
openAccessDesviat RL Fuctional Caracterization.pdf.jpg8-Apr-2015Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and manRivera-Barahona, Ana ; Sánchez-Alcudia, Rocío ; Viecelli, Hiu Man; Rüefenacht, Veronique; Pérez, Belén ; Ugarte, Magdalena ; Häberle, Johannes; Thöny, Beat; Desviat, Lourdes R. artículo
openAccessDesviatLr_GenerationAndCharacterization.pdf.jpg22-Jul-2017Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA geneAlonso-Barroso, Esmeralda; Brasil, Sandra ; Briso-Montiano, Alvaro; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena ; Pérez, Belén ; Desviat, Lourdes R. ; Richard, Eva 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
openAccessDesviatLR_IntronicPAHGene.pdf.jpg23-Apr-2018Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5’ splice siteMartínez-Pizarro, Ainhoa; Dembic, Maja; Pérez, Belén ; Andresen, Brage S.; Desviat, Lourdes R. 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.jpg2015Middle cerebral artery remodeling following transient brain ischemia is linked to early postischemic hyperemia: A target of uric acid treatmentOnetti, Yara; Dantas, A. P.; Pérez, Belén ; Cugota, Roger; Chamorro, Ángel; Planas, Anna M. ; Vila, Elisabet; Jiménez-Altayó, Francescartículo