Browsing by Author "fc4264c2-4f09-4714-b54c-7b51fd3997bc"
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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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Raimann, Erna; Farías Cornejo, Verónica; Arias, Carolina; Cabello, Juan Francisco; Castro, Gabriela; Fernández, Eloina; de la Parra, Alicia (2012)Background: Tyrosinemia type I is an inborn error of metabolism due to defi ciency of fumarilacetoacetase. Acute presentation is with liver failure, hypophosphatemic rickets and peripheral neuropathy. Chronic presentation ...