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Clinical Outcomes in Menkes Disease Patients with a Copper-Responsive ATP7A Mutation, G727R
Menkes disease is a fatal neurodegenerative disorder of infancy caused by defects in an X-linked copper transport gene, ATP7A. Evidence from a recent clinical trial indicates that favorable response to early treatment of this disorder with copper injections involves mutations that retain some copper...
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| Main Authors: | , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2008
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2654537/ https://ncbi.nlm.nih.gov/pubmed/18752978 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2008.06.015 |
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