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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 dis...

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Detalles Bibliográficos
Autores principales: Schwartz, Ida Vanessa Doederlein, Quesada, Andrea Amaro, Ribeiro, Erlane Marques, Martins, Ana Maria, Vilela, Daniel Reda Fenga, Pessoa, André
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Revinter Publicações Ltda. 2023
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10371414/
https://www.ncbi.nlm.nih.gov/pubmed/37336507
http://dx.doi.org/10.1055/s-0043-1768677