Mostrando resultados 2 a 14 de 14
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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | 2-feb-2023 | BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening | Tangeraas, Trine; Constante, Juliana R; Backe, Paul Hoff; Oyarzábal, Alfonso CSIC ORCID; Neugebauer, Julia; Weinhold, Natalie; Boemer, Francois; Debray, François G; Ozturk-Hism, Burcu; Evren, Gumus; Tuba, Eminoglu F.; Ummuhan, Oncul; Footitt, Emma; Davison, James; Martinez, Caroline; Bueno, Clarissa; Machado, Irene; Rodríguez-Pombo, Pilar CSIC ORCID; Al-Sannaa, Nouriya; De Los Santos, Mariela; Muchart López, Jordi; Ozturkmen-Akay, Hatice; Karaca, Meryem; Tekin, Mustafa; Pajares, Sonia; Ormazabal, Aida; Stoway, Stephanie D.; Artuch, Rafael; Dixon, Marjorie; Mørkrid, Lars; García-Cazorla, Angeles | 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 |  | 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 |
| openAccess |  | 2017 | Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease | Rice, Gillian I; Rodríguez-Pombo, Pilar CSIC ORCID; Crow, Yanick J. | 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 |
|  | 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 |
