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Loss or mutation of OCTN2 function results in primary systemic carnitine deficiency (PCD) with severe clinical consequences such as cardiac and skeletal myopathy, cardiac hypertrophy and NAFLD (28)

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10.1892/0891-6640(2005)19 2.0.co;2 22 DeGruttolaA
Preclinical validation using humanized autoimmune models will further improve translational accuracy (183)