| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | 2013 | A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease | Oyarzábal, Alfonso CSIC ORCID; Martínez Pardo, Mercedes; Merinero, Begoña CSIC; Navarrete, Rosa; Desviat, Lourdes R. CSIC ORCID | artículo |
| openAccess |  | 15-mar-2016 | Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment | Bravo-Alonso, Irene; 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 CSIC ORCID | artículo |
| openAccess |  | 2019 | Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency | knerr, Ina; Colombo, Roberto; Urquhart, Jill; Morais, Ana; Merinero, Begoña CSIC; Oyarzábal, Alfonso CSIC ORCID; Pérez, Belén CSIC ORCID; Jones, Simon A.; Perveen, Rahat; Preece, Mary A.; Rogers, Yvonne ; Treacy, Eileen P.; Mayne, Philip; Zampino, Giuseppe; MacKinnon, Sabrina; Wassmer, Evangeline; Yue, Wyatt W.; Robinson, Ian; Rodríguez-Pombo, Pilar CSIC ORCID; Olpin, Simon E.; Banka, Siddharth | artículo |
| openAccess |  | 5-abr-2018 | Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type | Richard, Eva CSIC ORCID; Brasil, Sandra CSIC ORCID; Briso-Montiano, Álvaro CSIC ORCID; Alonso-Barroso, Esmeralda; Gallardo, M. Esther CSIC ORCID; Merinero, Begoña CSIC; Ugarte, Magdalena CSIC ; Desviat, Lourdes R. CSIC ORCID; Pérez, Belén CSIC ORCID | artículo |
| openAccess |  | 1-nov-2019 | Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment | Bravo-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 CSIC ORCID; Martín, Miguel Ángel; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Merinero, Begoña CSIC; Pérez, Belén CSIC ORCID; Rodríguez-Pombo, Pilar CSIC ORCID | artículo |
| openAccess |  | 24-jul-2018 | Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants | Brasil, Sandra CSIC ORCID; Leal, Fátima CSIC; Vega, Ana; Navarrete, Rosa; Ecay, María J.; Desviat, Lourdes R. CSIC ORCID; Riera, Casandra; Padilla, Natàlia; de la Cruz, Xavier; Couce, María Luz; Martín-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 ; Pérez-Cerdá, Celia; Merinero, Begoña CSIC; Pérez, Belén CSIC ORCID | artículo |
| closedAccess |  | 2010 | Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch | Rivera, Henry; Merinero, Begoña CSIC; Ruiz-Sala, Pedro; Bornstein, Belén CSIC; Gallardo, M. Esther CSIC ORCID; Garesse, Rafael CSIC ORCID; Ugarte, Magdalena CSIC ; Martín, Miguel Ángel | artículo |
| openAccess |  | 2015 | Methylmalonic aciduria cblB type: Characterization of two novel mutations and mitochondrial dysfunction studies | Brasil, Sandra CSIC ORCID; Richard, Eva CSIC ORCID; Jorge-Finnigan, A.; Leal, Fátima CSIC; Merinero, Begoña CSIC; Banerjee, R.; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID | artículo |
| closedAccess |  | may-2010 | Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts. | Morán, María José; Rivera, Henry; Sánchez-Aragó, María CSIC; Blázquez, Alberto; Merinero, Begoña CSIC; Ugalde, Cristina; Arenas, Joaquín; Cuezva, José M. CSIC ORCID; Martín, Miguel Ángel | artículo |
| openAccess |  | feb-2018 | New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type | Brasil, Sandra CSIC ORCID; Briso-Montiano, Álvaro CSIC ORCID; Gámez, Alejandra CSIC ORCID; Underhaug, Jarl; Flydal, Marte I.; Desviat, Lourdes R. CSIC ORCID; Merinero, Begoña CSIC; Ugarte, Magdalena CSIC ; Martínez, Aurora; Pérez, Belén CSIC ORCID | artículo |
| closedAccess |  | 2012 | Novel features in the evolution of adenylosuccinate lyase deficiency | Pérez-Dueñas, Belén; Sempere, Ángela; Campistol, Jaume; Alonso-Colmenero, Itziar; Díez, María; González, Verónica CSIC ORCID; Merinero, Begoña CSIC; Desviat, Lourdes R. CSIC ORCID; Artuch, Rafael | artículo |
