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Browsing by Author Ormazabal, Aida

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RightsPreviewIssue DateTitleAuthor(s)Type
closedAccessaccesoRestringido.pdf.jpg2013cblE-type homocystinuria presenting with features of haemolytic-uremic syndrome in the newborn periodPalanca, Daniel; García-Cazorla, Angels; Ortiz, Jessica; Jou, Cristina; Cusí, Victoria; Suñol, Mariona; Toll, Teresa; Pérez, Belén; Ormazabal, Aida; Fowler, Brian; Artuch, Rafaelartículo
closedAccessaccesoRestringido.pdf.jpg2013Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiencyTondo, Mireia; Calpena, Eduardo CSIC ORCID; Arriola, Gema; Sanz, Paloma; Martorell, Loreto; Ormazabal, Aida; Castejón, Esperanza; Ugarte, Magdalena CSIC; Espinos, Carmen; Pérez, Belén; Pérez-Dueñas, Belén; Artuch, Rafaelartículo
openAccessantioxidants-09-01063.pdf.jpg30-Oct-2020Disrupted Mitochondrial and Metabolic Plasticity Underlie Comorbidity between Age-Related and Degenerative Disorders as Parkinson Disease and Type 2 Diabetes MellitusJuárez-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, Josep Maria; Cardellach, Francesc; Artuch, Rafael; Fernández-Santiago, Rubén; Garrabou, Glòriaartículo
openAccessUROCANASE J Med genet revised version_19.pdf.jpg2009Mutations in the urocanase gene UROC1 are associated with urocanic aciduriaEspinós, Carmen CSIC ORCID; Pineda, Mercè; Martínez-Rubio, Dolores CSIC; Lupo, Vincenzo CSIC ORCID; Ormazabal, Aida; Vilaseca, María A.; Spaapen, Leo J. M.; Palau Martínez, Francesc CSIC ORCID; Artuch, Rafaelartículo