Life‐span and Menkes kinky hair syndrome: report of a 13‐year course of this disease
- 1 March 1988
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 33 (3) , 228-233
- https://doi.org/10.1111/j.1399-0004.1988.tb03441.x
Abstract
The life-span of Menkes syndrome patients is discussed in connection with a boy suffering from this disease who lived to the age of 13.5 years. The copper metabolism defect is described. Therapeutic trials, mainly copper substitution, and prospects are summed up.Keywords
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