| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| 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 |  | 22-may-2019 | Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene | López-Márquez, Arístides CSIC ORCID; Alonso-Barroso, Esmeralda; Cerro-Tello, Gema; Bravo-Alonso, Irene; Arribas-Carreira, Laura; Briso-Montiano, Álvaro CSIC ORCID; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Richard, Eva CSIC ORCID | artículo |
| openAccess |  | 16-jul-2019 | Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene | Arribas-Carreira, Laura; Bravo-Alonso, Irene; López-Márquez, Arístides CSIC ORCID; Alonso-Barroso, Esmeralda; Briso-Montiano, Álvaro CSIC ORCID; Arroyo, Ignacio; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Pérez-Cerdá, Celia; Rodríguez-Pombo, Pilar CSIC ORCID; Richard, Eva 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 |
|  | 28-feb-2024 | Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient | Arribas-Carreira, Laura; Castro, Margarita; García, Fernando; Navarrete, Rosa; Bravo-Alonso, Irene; Zafra, Francisco CSIC ORCID; Ugarte, Magdalena CSIC; Richard, Eva CSIC ORCID; Pérez, Belén CSIC ORCID; Rodríguez-Pombo, Pilar CSIC ORCID | artículo |
| openAccess |  | mar-2023 | Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy | Bravo-Alonso, Irene; Morin, Matias; Arribas-Carreira, Laura; Álvarez, Mar CSIC ORCID; Padrón-Giner, Consuelo; Soletto, Lucia; Santolaria, Carlos; Ramón-Maiques, Santiago CSIC ORCID ; Ugarte, Magdalena CSIC ; Rodríguez-Pombo, Pilar CSIC ORCID; Ariño, Joaquín; Moreno-Pelayo, Miguel Ángel; Pérez, Belén CSIC ORCID | artículo |
