The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Surgery
Reference5 articles.
1. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management;Nie;Orphanet J. Rare Dis.,2014
2. A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis;Mignarri;J. Inherit. Metab. Dis.,2014
3. Cerebrotendinous xanthomatosis: a treatable ataxia;Clemen;Neurology,2005
4. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene;Gallus;Neurol. Sci.,2006
5. Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis;Shiga;J. Neurol. Neurosurg. Psychiatry,1999
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