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doi: 10.3389/fmed.2015.00010

Bowers, E

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)

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It enhanced mitochondrial biogenesis by increasing ATP synthesis and promoting the activity of mitochondrial electron transport chain

To establish a sustainable care system for CHE, diagnostic tests should be brief, equipment-free, and easily administered by any healthcare professional, thereby enabling multidisciplinary collaboration and the development of a seamless algorithm from diagnosis to treatment