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In utero copper treatment for Menkes disease associated with a severe ATP7A mutation
Menkes disease is a lethal X-linked recessive neurodegenerative disorder of copper transport caused by mutations in ATP7A, which encodes a copper-transporting ATPase. Early postnatal treatment with copper injections often improves clinical outcomes in affected infants. While Menkes disease newborns...
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| Main Authors: | , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2012
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3444639/ https://ncbi.nlm.nih.gov/pubmed/22695177 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2012.05.008 |
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