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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...
Autores principales: | Schwartz, Ida Vanessa Doederlein, Quesada, Andrea Amaro, Ribeiro, Erlane Marques, Martins, Ana Maria, Vilela, Daniel Reda Fenga, Pessoa, André |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Thieme Revinter Publicações Ltda.
2023
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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 |
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