全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
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作者:... Marc Julià , Anna Domínguez , Juan Ferrando
来源:[J].PEDIATRICS, 2012, Vol.130 (1), pp.e239-e242Highwire
摘要:Menkes disease is an X-linked recessive lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration, connective tissue disturbances, and peculiar kinky hair are the main manifestations. The low serum copper and ceruloplasmin suggests the diagnosis, which is ...

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