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Discussion We report 3 probands from two unrelated families with rare BBOX1 variants, L-carnitine deficiency, and elevated levels of plasma -BB, indicative of a causative effect of the BBOX1 variants affecting the final stage of the L-carnitine biosynthetic pathway

If persistent and significant, contact your doctor

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Introduction As discussed, intestinal permeability is regulated by the physical barrier created by epithelial cells and junctional complexes (Figs

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