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Neonatal Diagnosis and Treatment of Menkes Disease

BACKGROUND: Menkes disease is a fatal neurodegenerative disorder of infancy caused by diverse mutations in a copper-transport gene, ATP7A. Early treatment with copper injections may prevent death and illness, but presymptomatic detection is hindered by the inadequate sensitivity and specificity of d...

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Detalhes bibliográficos
Main Authors: Kaler, Stephen G., Holmes, Courtney S., Goldstein, David S., Tang, Jingrong, Godwin, Sarah C., Donsante, Anthony, Liew, Clarissa J., Sato, Susumu, Patronas, Nicholas
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3477514/
https://ncbi.nlm.nih.gov/pubmed/18256395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa070613
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