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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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| Vydáno v: | J Trace Elem Med Biol |
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| Hlavní autor: | |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2014
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| Témata: | |
| On-line přístup: | 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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