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.
Originalsprog | Engelsk |
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Tidsskrift | Journal of Inherited Metabolic Disease |
Vol/bind | 21 |
Udgave nummer | 5 |
Sider (fra-til) | 604-12 |
Antal sider | 9 |
ISSN | 0141-8955 |
DOI | |
Status | Udgivet - aug. 1998 |
Udgivet eksternt | Ja |