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Browsing by Author Pérez-Cerdá, Celia

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Showing results 1 to 8 of 8
RightsPreviewIssue DateTitleAuthor(s)Type
closedAccessaccesoRestringido.pdf.jpg2013Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiencyPuisac, Beatriz; Teresa-Rodrigo, María-Esperanza; Arnedo, María; Gil-Rodríguez, María Concepción; Pérez-Cerdá, Celia; Ribes, Antonia; Pié, Ángeles; Bueno, Gloria; Gómez-Puertas, Paulino  ; Pié, JuanArtículo
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
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
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_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.jpg2012Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)Casado, Mercedes; O'Callaghan, M.; Montero, Raquel; Pérez-Cerdá, Celia; Pérez, Belén ; Briones, P.; Quintana, E.; Muchart, J.; Aracil, A.; Pineda, Mercé; Artuch, RafaelArtículo
openAccessPérezB_TheEffectsOfPMM2-CDG-CausingMutations.pdf.jpg2015The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 ProteinYuste-Checa, Patricia ; Gámez, Alejandra ; Brasil, Sandra ; Desviat, Lourdes R. ; Ugarte, Magdalena ; Pérez-Cerdá, Celia; Pérez, Belén 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