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Diagnosis can be further confirmed by demonstrating reduced carnitine transport in skin fibroblasts in the patient or by mutation analyses of the SLC22A5 gene
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Effect of Sirt3 on retinal pigment epithelial cells in high glucose through Foxo3a/ PINK1-Parkin pathway mediated mitophagy
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doi:10.1016/S0140-6736(21)00536-5 Nachawi N, Rao PP, Makin V
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