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• W2010103693 abstract "Menkes disease is a fatal neurodegenerative disorder of infancy caused by diverse mutations in a copper-transport gene, ATP7A. Early treatment with copper injections may prevent death and illness, but presymptomatic detection is hindered by the inadequate sensitivity and specificity of diagnostic tests. Exploiting the deficiency of a copper enzyme, dopamine-β-hydroxylase, we prospectively evaluated the diagnostic usefulness of plasma neurochemical levels, assessed the clinical effect of early detection, and investigated the molecular bases for treatment outcomes." @default.
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• W2010103693 date "2008-02-07" @default.
• W2010103693 modified "2023-10-17" @default.
• W2010103693 title "Neonatal Diagnosis and Treatment of Menkes Disease" @default.
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• W2010103693 doi "https://doi.org/10.1056/nejmoa070613" @default.
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