Browsing by Author "201-0473836"

Now showing items 1-6 of 6

    • 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 ...
    • Consumo de lácteos y riesgo de cáncer colorrectal: una revisión de la literatura científica 
      Carpio, Kathleen; Cornejo Espinoza, Verónica; Leal Witt, María Jesús; Durán Aguero, Samuel (Sociedad Chilena de Nutrición, 2021)
      Colorectal cancer (CRC) is one of the most common malignancies and represents one of the leading causes of cancer death worldwide. There is strong evidence that dietary factors influence CRC incidence. Dairy products have ...
    • First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive ... 
      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 ... 
      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 ... 
      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 ...