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In the absence of mutations in DNA repair-coding genes, FA can also underly a variant of a human inherited bone marrow failure syndrome (IBMFS) caused by mutations in both ALDH2 and ADH5 10, 14

This Review describes the mechanisms of action of antioxidants synthesized in vivo, antioxidants derived from the human diet and synthetic antioxidants developed as therapeutic agents, with a focus on the gaps in our current knowledge and the approaches needed to close them

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Most patients schedule 2 to 4 clinic visits per month alongside at-home peptide administration.

29,37 Norrin protein can also bind to Frizzled class receptor 4 (FZD4) and LRP5/6 to form a ternary complex and promote the downstream signal transmission of Wnt/-catenin