脑腱黄瘤病：代谢性共济失调的可治疗病因。
Cerebrotendinous xanthomatosis: a treatable cause of metabolic ataxia.
作者信息
Mukherjee A A, Chawla B P, Rathi S S, Puthran R S
机构信息
Department of Medicine, K.J. Somaiya Medical College and Research Centre, Sion, Mumbai.
出版信息
J Assoc Physicians India. 2007 Sep;55:655-7.
PMID:18051740
Abstract
Cerebrotendinous xanthomatosis is an exceptionally rare condition in Indian subcontinent, however, it is potentially treatable if diagnosed. We present and discuss the clinical presentation and investigations in a case of cerebrotendinous xanthomatosis (CTX).
摘要
脑腱黄瘤病在印度次大陆是一种极其罕见的病症，然而，如果能够确诊，它是有可能得到治疗的。我们展示并讨论了一例脑腱黄瘤病（CTX）的临床表现及相关检查。
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