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Additional tests may include holotranscobalamin or methylmalonic acid (for borderline results), intrinsic factor antibodies (if pernicious anaemia is suspected), and coeliac serology where appropriate

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As WD is an autosomal recessive disorder, an individual must inherit two copies of the mutated ATP7B gene, one from each parent, both of whom are usually carriers (see Figure 1)[8]

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B12 injections are clinically indicated for specific patient groups with documented deficiency or conditions affecting B12 absorption