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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...

詳細記述

保存先:
書誌詳細
出版年:J Trace Elem Med Biol
第一著者: Kaler, Stephen G.
フォーマット: Artigo
言語:Inglês
出版事項: 2014
主題:
オンライン・アクセス: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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