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...

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Détails bibliographiques
Publié dans:Int J Mol Sci
Auteurs principaux: De Jaco, Antonella, Mango, Dalila, De Angelis, Federica, Favaloro, Flores Lietta, Andolina, Diego, Nisticò, Robert, Fiori, Elena, Colamartino, Marco, Pascucci, Tiziana
Format: Artigo
Langue:Inglês
Publié: MDPI 2017
Sujets:
Short Note
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5454854/
https://ncbi.nlm.nih.gov/pubmed/28468253
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms18050941
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