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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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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| 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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