Browsing by Author "663981e5-c89e-4921-a53d-dce3fffab021"

Now showing items 1-2 of 2

    • 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 ...
    • Pompe disease: Clinical perspectives 
      Cabello Andrade, Juan Francisco; Marsden, Deborah (Dove Medical, 2017)
      Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage ...