Mostrando resultados 8 a 14 de 14
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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| 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 |
|  | 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 |
| closedAccess |  | 2012 | Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease | Pérez, Belén CSIC ORCID; Rodríguez-Pombo, Pilar CSIC ORCID; Ugarte, Magdalena CSIC ; Desviat, Lourdes R. CSIC ORCID | artículo |
| closedAccess | | feb-2001 | The molecular basis of 3-methylcrotonylglycinuria, a disorder of the leucine catabolism | Gallardo, M. Esther CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Rodríguez, José M.; Esparza-Gordillo, Jorge CSIC; Pérez-Cerdá, Celia; Pérez, Belén CSIC ORCID; Rodríguez-Pombo, Pilar CSIC ORCID; Navarrete, Olga; Sanz, Raúl; Morton, D.Holmes; Criado-García, Olga CSIC ORCID ; Gibson, K.Michael; Le, Thuy P.; Ribes, Antonia; Rodríguez de Córdoba, Santiago ; Ugarte, Magdalena CSIC ; Peñalva, Miguel Ángel CSIC ORCID | artículo |
| openAccess |  | 23-jun-2014 | Thiamine transporter-2 deficiency: outcome and treatment monitoring | Ortigoza-Escobar, Juan Darío; Serrano, Mercedes; Molero, Marta; Oyarzábal, Alfonso CSIC ORCID; Rebollo, Mónica; Muchart, J.; Artuch, Rafael; Rodríguez-Pombo, Pilar CSIC ORCID; Pérez-Dueñas, Belén | artículo |
| closedAccess |  | 2012 | Wernicke-like encephalopathy during classic maple syrup urine disease decompensation | Manara, Renzo; Rizzo, Mónica del; Burlina, A. P.; Bordugo, A.; Citton, V.; Rodríguez-Pombo, Pilar CSIC ORCID; Ugarte, Magdalena CSIC ; Burlina, A. B. | artículo |
