Spinal cerebrotendinous xanthomatosis: A case report and literature review
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference51 articles.
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1. A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report;Journal of Medical Case Reports;2024-07-11
2. Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals;Molecular Genetics and Metabolism;2024-06
3. A Rare Symptomatic Case of Heterozygous Cerebro-Tendinous Xanthomatosis (CTX) Treated with Urso-Deoxycholic Acid (UDCA): With Mini Review;Journal of Neuroscience and Neurological Disorders;2024-05-27
4. Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review;Brain Sciences;2023-06-22
5. Identification of two Iranian siblings with cerebrotendinous xanthomatosis: a case report;Egyptian Journal of Medical Human Genetics;2023-05-17
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