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Browsing by Author Arnedo, María

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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
closedAccessaccesoRestringido.pdf.jpg2012Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosolArnedo, María; Gómez-Puertas, Paulino  ; Pié, Juanartículo
openAccessHMG-CoA_lyase_mitochondrial_enzyme.pdf.jpg4-Dec-2019More than one HMG-CoA lyase: the classical mitochondrial enzyme plus the peroxisomal and the cytosolic onesArnedo, María; Latorre-Pellicer, Ana; Lucia-Campos, Cristina; Gil-Salvador, Marta; Antoñanzas-Peréz, Rebeca; Gómez-Puertas, Paulino  ; Bueno-Lozano, Gloria; Puisac, Beatriz; Pié, Juanartículo
openAccessGómez-PuertasP_MoreThanOneHMG-CoA.pdf.jpg4-Dec-2019More than one hmg-coa lyase: The classical mitochondrial enzyme plus the peroxisomal and the cytosolic onesArnedo, María; Latorre-Pellicer, Ana; Lucia-Campos, Cristina; Gil-Salvador, Marta; Antoñanzas-Peréz, Rebeca; Gómez-Puertas, Paulino  ; Bueno-Lozano, Gloria; Puisac, Beatriz; Pié, Juanartículo
closedAccessaccesoRestringido.pdf.jpg2013New case of mitochondrial HMG-CoA synthase deficiency: Functional analysis of eight mutationsRamos, Mónica; Menao, Sebastián; Arnedo, María; Puisac, Beatriz; Gil-Rodríguez, María Concepción; Hernández-Marcos, María; Pierre, Germaine; Ramaswami, Uma; Baquero-Montoya, Carolina; Bueno, Gloria; Casale, César; Hegardt, Fausto G.; Gómez-Puertas, Paulino  ; Pié, Juanartículo