Browsing by Author "dc89d7b0-46f4-4038-8c2c-50059d4e1587"

Now showing items 1-3 of 3

    • Aumento de transaminasas: una manifestación de distrofia muscular de Duchenne 
      Avaria Benapres, María de los Ángeles; Beytía, María de los Ángeles; Kleinsteuber, Karin; Rodillo, Eliana; Alegría Quevedo, Sylvia (Sociedad Chilena de Pediatría, 2012)
      Commonly used in clinical practice, glutamic oxalacetic (GOT) and glutamic piruvic (GPT) transaminases are produced in various body tissues, including striated muscle, so their blood elevation is not due exclusively ...
    • Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant 
      Ávila Smirnow, Daniela; Vargas Leal, Carmen; Beytía Reyes, María de los Ángeles; Cortés Zepeda, Rocío; Escobar, Raúl G.; Kleinsteuber Saa, Karin; Lagos Lucero, Marcela; Avaria Benapres, María de los Ángeles; Padilla Pérez, Oslando; Casar Leturia, Juan Carlos; Mellado Sagredo, Cecilia; Sternberg, Damien (Elsevier, 2020)
      Non-dystrophic myotonias are a group of rare neuromuscular diseases linked to SCN4A or CLCN1 . Among the subtypes, myotonia permanens, associated with the Gly1306Glu variant of SCN4A , is a relatively less frequent but ...
    • Peripheral nerve conduction abnormalities in children exposed to alcohol in utero 
      Avaria Benapres, María de los Ángeles; Mills, James L.; Kleinsteuber, Karin; Aros Aranguiz, Sofía; Conley, Mary R.; Cox, Christopher; Klebanoff, Mark; Cassorla Goluboff, Fernando (Elsevier, 2004)
      Objective We performed a longitudinal study of nerve conduction velocity to determine the effect of prenatal alcohol exposure on the peripheral nervous system. Study design We studied 17 children exposed to >2 oz of ...