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Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough?

Phenylketonuria is caused by mutations in the enzyme phenylalanine hydroxylase gene, that can result in abnormal concentrations of phenylalanine on blood, resulting in metabolites that can cause brain damage. The treatment is based on dietary restriction of phenylalanine, and noncompliance with trea...

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Detalles Bibliográficos
Autores principales: Beckhauser, Mayara Thays, Peruchi, Mirella Maccarini, Rozone de Luca, Gizele, Lin, Katia, Esteves, Sofia, Vilarinho, Laura, Lin, Jaime
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3981257/
https://www.ncbi.nlm.nih.gov/pubmed/24765287
http://dx.doi.org/10.4081/cp.2011.e25