Browsing by Author "dfe96bd1-7397-4f3c-9e76-d5464ceee4e6"
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Medina, María F.; Arias, Carolina; Cabello, Juan F.; Parra, Alicia de la; Valiente, Alf; Castro, Gabriela; Fuenzalida, Karen; Cornejo, Verónica (Wiley, 2020)We report the case of a 17-year-old girl with Tyrosinemia type 1a who carried a planned pregnancy to term while being under 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC, nitisinone) treatment and a ...
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Campos Bravo, Paulina Andrea; Raimann, Erna; Cabello, Juan Francisco; Arias, Carolina; Peredo, Pilar; Olivares Castro, Gabriela; Hamilton, Valerie; Campo, Karen; Cornejo, Verónica (Sociedad Chilena de Pediatria, 2015)© 2015 Sociedad Chilena de Pediatría.Hyperphenylalaninaemias are defined by a blood phenylalanine over 2 mg/dl. The main cause is due to a mutation in the gene that codes the phenylalanine hydroxylase that catalyses the ...