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1 Possible Causes for Possibly Subtle Manifestations in Female Carriers

  • Menkes Disease

    Menkes disease (MD) is a lethal disorder characterized by severe neurological symptoms and connective tissue abnormalities; and results from malfunctioning of cuproenzymes, which cannot receive copper due to a defective intracellular copper transporting protein, ATP7A. Early parenteral copper-histidine[…][ncbi.nlm.nih.gov]

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