Browsing by Author "cc107881-0ba2-48d4-b8e4-05713ad44b1c"
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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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Lagos García, María Ignacia; Parra, Alicia de la; Arias Pefaur, Carolina; Arredondo Olguín, Miguel Armando; Cabello Andrade, Juan (Elsevier, 2017)Introduction: Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder caused by a defect in the enzyme fumarylacetoacetate hydroxylase in the tyrosine pathway. Implementation of nitisinone (NTBC) treatment has dramatically ...
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Lagos García, María Ignacia; Araya, Gabriela; Coo, Soledad; Waisbren, Susan E.; Parra, Alicia de la (Elsevier, 2017)Introduction: Phenylketonuria (PKU) is an autosomal recessive disorder characterized by a deficiency in phenylalanine (Phe) hydroxylase activity. Early diagnosis and continuous treatment with a low Phe diet prevents ...