Browsing by Author "132d5b2c-0ada-47c5-bc84-9b7896496130"

Now showing items 1-5 of 5

    • A Prospective Cohort Study of the Prevalence of Growth, Facial, and Central Nervous System Abnormalities ... 
      Kuehn, Devon; Aros, Sofia; Cassorla Goluboff, Fernando; Avaria, Maria; Unanue, Nancy; Henriquez, Cecilia; Kleinsteuber, Karin; Conca Binfa, Bárbara; Avila, Alejandra; Carter, Tonia C.; Conley, Mary R.; Troendle, James; Mills, James L. (2012)
      Background:Most children who are exposed to large quantities of alcohol in utero do not developfetal alcohol syndrome (FAS). Population-based prospective data on the risk of developing componentsof fetal alcohol spectrum ...
    • 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 ...
    • Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy 
      Domínguez-González, Cristina; Madruga-Garrido, Marcos; Mavillard, Fabiola; Garone, Caterina; Aguirre-Rodríguez, Francisco Javier; Donati, M. Alice; Kleinsteuber, Karin; Martí, Itxaso; Martín-Hernández, Elena; Morealejo-Aycinena, Juan P.; Munell, Francina; Nascimento (John Wiley and Sons Inc., 2019)
      Objective: Thymidine kinase 2, encoded by the nuclear gene TK2, is required for mitochondrial DNA maintenance. Autosomal recessive TK2 mutations cause depletion and multiple deletions of mtDNA that manifest predominantly ...
    • 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 ...
    • Transaminases increase: A manifestation of Duchenne's muscular dystrophy Aumento de transaminasas: Una ... 
      Avaria, María de los Ángeles; Beytía, María de los Ángeles; Kleinsteuber, Karin; Rodillo, Eliana; Alegría, Sylvia (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 to ...