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    Clin Genet. 1977 Feb;11(2):154-61.

    Menkes kinky hair syndrome: Is it a treatable disorder?

    Garnica AD, Frias JL, Rennert OM.

    Abstract

    A male infant with Menkes Kinky Hair Syndrome was treated with a 3-week course of cupric acetate infusions, which was terminated when he developed aminoaciduria. The lack of improvement seen in this infant is representative of the reported experience with parenteral copper therapy in this condition, and may be attributable to the presence of a clinically significant abnormality in copper metabolism in utero.

    PMID:
    189959
    [PubMed - indexed for MEDLINE]

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