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Menkes disease
Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar ‘kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority o...
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主要な著者: | , |
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フォーマット: | Artigo |
言語: | Inglês |
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Nature Publishing Group
2010
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オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2987322/ https://ncbi.nlm.nih.gov/pubmed/19888294 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.187 |
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