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Cerebrotendinous xanthomatosis in two sisters: case reports and MR imaging.

作者信息

Chakraverty S, Griffiths P D, Walls T J, McAllister V L

机构信息

Department of Neuroradiology, Newcastle General Hospital, Newcastle upon Tyne.

出版信息

Clin Radiol. 1995 Feb;50(2):117-9. doi: 10.1016/s0009-9260(05)82994-0.

Abstract

Cerebrotendinous xanthomatosis is a rare inherited disorder of bile acid metabolism producing xanthomata and severe, progressive neurological deficits. In spite of the rarity of the condition it is important because it is treatable: the neurological deterioration can be halted and in some cases reversed.

摘要

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