Now showing items 1-5 of 5

    • Composición Lipídica de la Dieta de Niños Fenilquetonúricos Diagnósticados Precozmente 

      Cornejo Espinoza, Verónica; Concha C., Miluska; Cabello, Juan Francisco; Raimann Ballas, Erna (ARCHIVOS LATINOAMERICANOS DE NUTRICION, 2005-12)
      La Fenilquetonuria (PKU) se produce por un defecto total o parcial de la enzima fenilalanina hidroxilasa (FAH) acumulándose fenilalanina (FA) en sangre, lo que ocasiona retardo mental si no es diagnosticada en el período ...
    • First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU 

      Parra, Alicia de la; García, María Ignacia; Hamilton, Valerie; Arias Pefaur, Carolina; Cabello Andrade, Juan Francisco; Cornejo Espinoza, Verónica (Elsevier, 2017)
      There is a consensus on the importance of early and life-long treatment for PKU patients. Still, differences existon target blood phenylalanine (Phe) concentrations for children with PKU in different countries and ...
    • Glucose transporter type 1 deficiency sindrome (GLUT-1 SD) treated with ketogenic diet. Report of one case 

      Cornejo Espinoza, Verónica; Cabello, Juan Francisco; Colombo, Marta; Raimann Ballas, Erna (2007)
      The glucose transporter type 1 deficiency syndrome (GLUT-1 SD) (OMIM 606777) is an. inborn error of metabolism of brain. glucose transport. The characteristic clinical manifestations are seizures, hypotonia, developmental ...
    • Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group 

      Merinero, B.; Pérez, B.; Pérez Cerda, C.; Rincón, A.; Desviat, L. R.; Martínez, M. A.; Ruiz Sala, P; García, M. J.; Aldamiz Echevarría, L.; Campos, J.; Cornejo Espinoza, Verónica; Toro, M. del; Mahfoud, A.; Martínez Pardo, M.; Parini, R.; Pedrón, C.; Peña Quintana, L.; Pérez, M.; Pourfarzam, M.; Ugarte, M. (SPRINGER, 2008-02)
      Methylmalonic acidaemia (MMA) is a genetic disorder caused by defects in methylmalonyl-CoA mutase or in any of the different proteins involved in the synthesis of adenosylcobalamin. The aim of this work was to examine the ...
    • Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia 

      Gallego, Diana; Leal, Fatima; Gámez, Alejandra; Castro, Margarita; Navarrete, Rosa; Sánchez Lijarcio, Obdulia; Vitoria, Isidro; Bueno Delgado, María; Belanger Quintana, Amaya; Morais, Ana; Pedrón Giner, Consuelo; García, Inmaculada; Campistol, Jaume; Artuch, Rafael; Alcaide, Carlos; Cornejo Espinoza, Verónica; Gil, David; Yahyaoui, Raquel; Desviat, Lourdes R.; Ugarte, Magdalena; Martínez, Aurora; Pérez, Belén (Wiley, 2020)
      Biallelic variants of the gene DNAJC12, which encodes a cochaperone, were recently described in patients with hyperphenylalaninemia (HPA). This paper reports the retrospective genetic analysis of a cohort of unsolved cases ...