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Subsequent to the discovery of OCTN2 gene (SLC22A5), molecular analysis has become a routine test to establish definitive diagnosis when patients present with symptoms (clinical symptomatic patients)

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doi: 10.1182/blood-2013-09-512749 70 MeduriGBauseroPPerrot-ApplanatM

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Oxidative stress and mitochondrial dysfunction Dox triggers cardiotoxicity via pronounced oxidative stress and mitochondrial dysfunction, driven by redox cycling and excessive generation of reactive oxygen species (ROS) which might disrupt the balance between oxidants and antioxidant defenses