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Menkes disease mutations and response to early copper histidine treatment

✍ Scribed by Kaler, Stephen G.

Book ID
109916014
Publisher
Nature Publishing Group
Year
1996
Tongue
English
Weight
260 KB
Volume
13
Category
Article
ISSN
1061-4036

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We report on the long-term clinical course of 4 boys with Menkes disease, treated from early infancy with parenteral copperhistidine, with follow-up over 10-20 years. Three of the 4 had male relatives with a severe clinical course compatible with classical Menkes disease. As a consequence of early t