Article
[Aceruloplasminemia].
Rinsho shinkeigaku = Clinical neurology - 1 Dec 2000
Miyajima H
Abstract excerpt
Ceruloplasmin is an abundant alpha 2-serum glycoprotein that contains greater than 95% of the copper present in human plasma. It is synthesized mainly in the liver. Aceruloplasminemia is an autosomal recessive disorder affecting iron metabolism, originally called familial apoceruloplasmin deficiency, which manifests late-onset blepharospasm and retinal degeneration. Subsequent investigations have found patients...
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