Cerebrotendinous Xanthomatosis with Cerebellar Ataxia as the Chief Symptom
Author:
Affiliation:
1. Department of Neurology, Tokai University Tokyo Hospital
2. Department of Neurology, Tokai University Hachioji Hospital
3. Department of Neurology, Tokai University School of Medicine
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
http://www.jstage.jst.go.jp/article/internalmedicine/46/15/46_15_1259/_pdf
Reference7 articles.
1. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene
2. Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis
3. Cerebrotendinous Xanthomatosis: The Spectrum of Imaging Findings and the Correlation with Neuropathologic Findings
4. Cerebrotendinous Xanthomatosis
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2. Natural history of neurological abnormalities in cerebrotendinous xanthomatosis;Journal of Inherited Metabolic Disease;2018-02-26
3. Neuro-ophthalmic Manifestations of Cerebellar Disease;Neurologic Clinics;2014-11
4. Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis;Journal of Neurology;2010-11-21
5. Identification of a Novel Missense Mutation in the Sterol 27-Hydroxylase Gene in Two Japanese Patients with Cerebrotendinous Xanthomatosis;Internal Medicine;2010
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