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Translational research activities are aimed at the development of new laboratory testing approaches for the diagnosis and monitoring of patients with inborn errors of metabolism. In particular, a tandem-mass spectrometry (MS/MS)-based test for glutathione, an important antioxidant, is being applied to the evaluation of patients with various metabolic disorders including mitochondrial myopathies. Results of these studies will further our understanding of the pathophysiology of metabolic diseases, with the ultimate aim of improving patient testing and developing new theraputic strategies.