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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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Bibliografske podrobnosti
Main Authors: Tang, Jingrong, Donsante, Anthony, Desai, Vishal, Patronas, Nicholas, Kaler, Stephen G.
Format: Artigo
Jezik:Inglês
Izdano: 2008
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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