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- W148518588 abstract "Cloning of the gene defective in the X-linked neurodegenerative disorder Menkes disease led to a cascade of new findings. Besides giving a better understanding of the intracellular copper homeostasis, these findings had important consequences from a clinical point of view. Today the underlying genetic defect has been described in several patients affected by one of the three hereditary disorders of copper metabolism: Menkes disease, occipital horn syndrome and wilson disease. In this review we discuss mainly Menkes disease and the impact of the recent findings on the diagnosis of this disorder." @default.
- W148518588 created "2016-06-24" @default.
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- W148518588 date "1998-08-01" @default.
- W148518588 modified "2023-09-25" @default.
- W148518588 title "Menkes disease: Underlying genetic defect and new diagnostic possibilities" @default.
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- W148518588 doi "https://doi.org/10.1023/a:1005479307906" @default.
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