Browsing by Author "b79c7644-8501-4035-8c1f-8c68da4a2ef7"
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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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Mabe, Paulina; Valiente, Alf; Soto, Vivian; Cornejo, Verónica; Raimann, Erna (2004)Background: The mucopolysaccharidosis (MPS) are a group of inherited metabolic disorders resulting from the deficiency of the enzyme responsible for intralysosomal catabolism of glycosaminoglycans (GAGs). GAGs are progressively ...