Browsing by Author "Santos, José Luis"

Now showing items 1-2 of 2

    • Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis 
      Smalley, Susan; Preiss, Yudith; Suazo Sanhueza, José Lorenzo; Vega, Javier; Angellotti, Isidora; Lagos, Carlos; Rivera, Enzo; Kleinsteuber, Karin; Campion, Javier; Martínez, J. Alfredo; Maiz, Alberto; Santos, José Luis (Sociedade Brasileira de Genética, 2015)
      Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with ...
    • Polimorfismos genéticos de interleuquina 6 (IL6), IL6R e IL18: asociación con componentes del síndrome ... 
      Suazo, José; Smalley, Susan Valerie; Hodgson, María Isabel; Weisstaub Nuta, Sergio; González, Andrea; Santos, José Luis (Sociedad Médica de Santiago, 2014)
      Metabolic Syndrome (MS) is highly prevalent among obese children and adolescents and is considered a predictor for the development of type 2 diabetes mellitus and cardiovascular disease. Obesity is associated with ...