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Clinical manifestations and treatment of Menkes disease and its variants

1 Aug 1999

Abstract excerpt

The clinical manifestations of classical Menkes disease, mild Menkes disease and occipital horn syndrome are reviewed. Menkes disease is a neurodegenerative disease with X-linked recessive inheritance. Orally administered copper accumulates in the intestine, resulting in the failure of copper absorption. The primary metabolic defect that causes copper accumulation in the intestine is present in almost all...

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PMID: 10453199
DOI: 10.1046/j.1442-200x.1999.01095.x

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