Browsing by Author "Cabello, Juan Francisco"

Now showing items 1-4 of 4

    • Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared ... 
      Muñoz Rojas, María Verónica; Bay, Luisa; Sanchez, Luz; van Kuijck, Marcel; Ospina, Sandra; Cabello, Juan Francisco; Martins, Ana María (2011)
      Background Mucopolysaccharidosis I (MPS I) comprises a spectrum of clinical manifestations and is divided into three phenotypes reflecting clinical severity: Hurler, Hurler- Scheie, and Scheie syndromes. There may be ...
    • 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 ...
    • 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 ...
    • Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America 
      Giugliani, Roberto; Solano Villarreal, Martha Luz; Arellano Valdez, C. Araceli; Mahfoud Hawilou, Antonieta; Guelbert, Norberto; Correa Garzón, Luz Norela; Martins, Ana María; Acosta, Angelina; Cabello, Juan Francisco; Lemes, Aída; Schmitz Ferreira Santos, Mara Lucía; Amartino, Hernán (Sociedade Brasileira de Genética, 2014)
      This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment ...