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Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment

Menkes disease is an X-linked recessive disorder of brain copper metabolism caused by mutations in an essential mammalian copper transport gene, ATP7A. Untreated affected individuals suffer failure to thrive and neurodevelopmental delays that usually commence at 6 to 8 weeks of age. Death by age thr...

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Detalhes bibliográficos
Publicado no:J Trace Elem Med Biol
Autor principal: Kaler, Stephen G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4253077/
https://ncbi.nlm.nih.gov/pubmed/25281031
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jtemb.2014.08.008
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