Article
The neurological presentation of ceruloplasmin gene mutations.
European neurology - 1 Jan 2008
McNeill Alisdair, Pandolfo Massimo, Kuhn Jens, Shang Huifang, Miyajima Hiroaki
Abstract excerpt
Aceruloplasminemia is an autosomal recessive disorder of iron metabolism resulting from mutations of the ceruloplasmin gene. To better define the neurological phenotype of aceruloplasminemia we reviewed reports of published cases and sought details of unpublished ones. We identified 32 published...
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