Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy
Author:
Publisher
Wiley
Subject
Neurology (clinical),General Medicine,Pathology and Forensic Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1440-1789.2006.00739.x/fullpdf
Reference17 articles.
1. Cerebrotendinous xanthomatosis: Heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings
2. Cerebrotendinous Xanthomatosis
3. Chronic demyelinating peripheral neuropathy in cerebrotendinous xanthomatosis
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3. Case of cerebrotendinous xanthomatosis with giant xanthomas and literature review;The Egyptian Journal of Neurology, Psychiatry and Neurosurgery;2023-04-18
4. Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia;Frontiers in Neurology;2023-03-07
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