| 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 |
| closedAccess |  | 2013 | cblE-type homocystinuria presenting with features of haemolytic-uremic syndrome in the newborn period | Palanca, Daniel; García-Cazorla, Angels; Ortiz, Jessica; Jou, Cristina; Cusí, Victoria; Suñol, Mariona; Toll, Teresa; Pérez, Belén CSIC ORCID; Ormazabal, Aida; Fowler, Brian; Artuch, Rafael | artículo |
| closedAccess |  | 2013 | Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency | Tondo, Mireia; Calpena, Eduardo CSIC ORCID; Arriola, Gema; Sanz, Paloma CSIC; Martorell, Loreto; Ormazabal, Aida; Castejón, Esperanza; Ugarte, Magdalena CSIC ; Espinós, Carmen CSIC ORCID; Pérez, Belén CSIC ORCID; Pérez-Dueñas, Belén; Artuch, Rafael | artículo |
| openAccess |  | 30-oct-2020 | Disrupted Mitochondrial and Metabolic Plasticity Underlie Comorbidity between Age-Related and Degenerative Disorders as Parkinson Disease and Type 2 Diabetes Mellitus | Juárez-Flores, Diana-Luz; Ezquerra, Mario; González-Casacuberta, Ingrid; Ormazabal, Aida; Morén, Constanza; Tolosa, Eduardo; Fucho, Raquel CSIC ORCID; Guitart-Mampel, Mariona; Casado, Mercedes; Valldeoriola, Francesc; Torre-Lara, Joan de la; Muñoz, Esteban; Tobías Rossell, Ester; Compta, Yaroslau; García-García, Francesc Josep; García-Ruiz, Carmen CSIC ORCID ; Fernández-Checa, José C. CSIC ORCID; Martí, María-José; Grau-Junyent, Josep María; Cardellach, Francesc; Artuch, Rafael; Fernández-Santiago, Rubén; Garrabou, Glòria | artículo |
| openAccess |  | 2009 | Mutations in the urocanase gene UROC1 are associated with urocanic aciduria | Espinós, Carmen CSIC ORCID; Pineda, Mercé; Martínez-Rubio, Dolores CSIC ORCID; Lupo, Vincenzo CSIC ORCID; Ormazabal, Aida; Vilaseca, María A.; Spaapen, Leo J. M.; Palau Martínez, Francesc CSIC ORCID; Artuch, Rafael | artículo |
