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This case illustrates the use of exome sequencing as a systematic and unbiased diagnostic tool in pediatric cardiomyopathy, providing an efficient route to the identification of the underlying cause, which lead to appropriate treatment and prevention of premature death

Schiavi S, Rosa PL, Petrillo S, Carbone E, DAmico J, Piemonte F, Trezza V (2022) N-acetylcysteine mitigates social dysfunction in a rat model of autism normalizing glutathione imbalance and the altered expression of genes related to synaptic function in specific brain areas