Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil

Background Phenylketonuria (PKU) is an inborn error of metabolism caused by deficient activity of phenylalanine hydroxylase.In Brazil, the National Neonatal Screening Program enables early treatment of patients with PKU, which prevents them from developing severe neurological damage and mental disabilities.However, between 20 and 30% of transpharm

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