Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: Report of a novel CYP27A1 mutation and literature review
Author:
Publisher
Elsevier BV
Subject
Cardiology and Cardiovascular Medicine,Nutrition and Dietetics,Endocrinology, Diabetes and Metabolism,Internal Medicine
Reference23 articles.
1. Diagnosis, treatment and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis;Duell;J Clin Lipid,2018
2. Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start;Stelten;Neurology,2019
3. Natural history of neurological abnormalities in cerebrotendinous xanthomatosis;Wong;J Inherit Metab Dis,2018
4. The spectrum of magnetic resonance findings in cererotendinous xanthomatosis: redefinition and evidence of new markers of disease progression;Mignarri;J Neurol,2017
5. New insights into the pathological mechanisms of cerebrotendinous xanthomatosis in the Taiwanese using genomic and proteomic tools;Wang;Proteomics,2006
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3. Case Report: a novel CYP27A1 gene variant in a patient with cerebrotendinous xanthomatosis with unusual clinical findings;International Journal of Neuroscience;2023-12-28
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