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Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism
Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia and variable neurological and cognitive impai...
Autores principales: | De Jaco, Antonella, Mango, Dalila, De Angelis, Federica, Favaloro, Flores Lietta, Andolina, Diego, Nisticò, Robert, Fiori, Elena, Colamartino, Marco, Pascucci, Tiziana |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454854/ https://www.ncbi.nlm.nih.gov/pubmed/28468253 http://dx.doi.org/10.3390/ijms18050941 |
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