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