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Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria

Phenylketonuria (PKU) is an inherited metabolic disease characterized by a defective conversion of phenylalanine (Phe) to tyrosine, potentially leading to Phe accumulation in the brain. Dietary restriction since birth has led to normal cognitive development. However, PKU patients can still develop c...

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Detalles Bibliográficos
Autores principales:	Manti, Filippo, Caviglia, Stefania, Cazzorla, Chiara, Dicintio, Annamaria, Pilotto, Andrea, Burlina, Alessandro P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Position Statement
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9769037/ https://www.ncbi.nlm.nih.gov/pubmed/36544165 http://dx.doi.org/10.1186/s13023-022-02488-2

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