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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Hlavní autoři: Haddad, Marie Reine, Macri, Charles J., Holmes, Courtney S., Goldstein, David S., Jacobson, Beryl E., Centeno, Jose A., Popek, Edwina J., Gahl, Willam A., Kaler, Stephen G.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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On-line přístup: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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