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Gain-of-function mutation in ACOX1, Mitchell Syndrome: Gain-of-function mutation in peroxisomal acyl-CoA oxidase 1 (ACOX1) is a very rare heterozygous missense variant (p

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GSH augmentation as a potential therapeutic strategy in CNS disease has been suggested for decades, 23 although repletion efforts have been hindered by inability to assess human CNS GSH concentrations in vivo and poor oral absorption of GSH