Browsing by Author "8f49439d-363f-41b0-97cb-67d2f74980f6"
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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 ...
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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 ...