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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

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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