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Showing results 1 to 12 of 12
RightsPreviewIssue DateTitleAuthor(s)Type
openAccess2013 JIMD Rep 7-123.pdf.jpg6-Jul-20125-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense ChangesCalpena, Eduardo CSIC ORCID; Casado, Mercedes; Martínez-Rubio, Dolores CSIC; Nascimento, Andrés; Colomer, Jaume; Gargallo, Eva; García-Cazorla, Angels; Palau Martínez, Francesc CSIC ORCID; Artuch, Rafael; Espinós, Carmen CSIC ORCIDartículo
openAccessstatisticactiviti.pdf.jpg2016A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activitiesYubero, Delia; Montero, Raquel; García-Cazorla, Angels; Navas, Plácido CSIC ORCID; Artuch, Rafaelartículo
closedAccess20-Mar-2008Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromesMontero, Raquel; Sánchez-Alcázar, José Antonio CSIC ORCID ; Briones, Paz; Rodríguez-Hernández, Ángeles CSIC ORCID; Cordero, Mario D. CSIC ORCID; Trevisson, Eva; Salviati, Leonardo; Pineda, Mercé; García-Cazorla, Angels; Navas, Plácido CSIC ORCID; Artuch, Rafaelartículo
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.jpg2013Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromesMontero, Raquel; Briones, Paz; Artuch, Rafael; Pineda, Mercé; García-Cazorla, Angels; Salviati, Leonardo; Navas, Plácido 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 ORCID ; Merinero, Begoña CSIC; García-Cazorla, Angels; Artuch, Rafael; Ugarte, Magdalena CSIC; Rodríguez-Pombo, Pilar CSICartículo
closedAccessaccesoRestringido.pdf.jpg2013Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domainsAlonso, Antonia; Merchán, Paloma; Sandoval, Juan E.; Sánchez-Arrones, Luisa CSIC; García-Cazorla, Angels; Artuch, Rafael; Martínez de la Torre, Margaret; Puelles, Luis; Ferrán, José Luisartículo
closedAccessaccesoRestringido.pdf.jpg2021Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-functionSantos-Gómez, Ana; Miguez-Cabello, Federico; García-Recio, Adrián; Locubiche-Serra, Sílvia; García-Díaz, Roberto; Soto-Insuga, Víctor; Guerrero-López, Rosa; Juliá-Palacios, Natalia; Ciruela, Francisco; García-Cazorla, Angels; Soto, David; Olivella, Mireia; Altafaj, Xavierartículo
closedAccessaccesoRestringido.pdf.jpgNov-2020Laboratory Diagnosis of a Case with Coenzyme Q10 DeficiencyParedes-Fuentes, Abraham J.; Julià-Palacios, Natalia A.; Yubero, Delia; Cascajo Almenara, M. V. CSIC ORCID; García-Cazorla, Angels; Santos-Ocaña, Carlos CSIC ORCID CVN ; Artuch, Rafaelartículo
closedAccessaccesoRestringido.pdf.jpg2008Mitochondrial diseases mimicking neurotransmitter defectsGarcía-Cazorla, Angels; Garesse, Rafael CSIC ORCIDartículo
openAccessPlasma_Montero_Art2019.pdf.jpg2019Plasma coenzyme Q10 status is impaired in selected genetic conditionsMontero, Raquel; Yubero, Delia; Salgado, María C.; González, María Julieta; Campistol, Jaume; O’Callaghan, Maria del Mar; Pineda, Mercè; Delgadillo, Verónica; Maynou, Joan; Fernandez, Guerau; Montoya, Julio; Ruiz-Pesini, Eduardo; Meavilla, Silvia; Neergheen, Viruna; García-Cazorla, Angels; Navas, Plácido CSIC ORCID; Hargreaves, Iain; Artuch, Rafaelartículo
closedAccessaccesoRestringido.pdf.jpg2016Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disordersYubero, Delia; Montero, Raquel; Martín, Miguel A.; Rodríguez-Aguilera, Juan Carlos CSIC ORCID; Navas, Plácido CSIC ORCID; Artuch, Rafael; García-Cazorla, Angels; Rivas Infante, Eloy; Cascajo Almenara, M. V. CSIC ORCID; Alcázar-Fabra, María; Brea-Calvo, Gloria CSIC ORCIDartículo