A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene
Author:
Publisher
Elsevier BV
Subject
Cardiology and Cardiovascular Medicine,Nutrition and Dietetics,Endocrinology, Diabetes and Metabolism,Internal Medicine
Reference16 articles.
1. Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX);Salen;J Inherit Metab Dis,2017
2. Update on cerebrotendinous xanthomatosis;DeBarber;Curr Opin Lipidol,2021
3. A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis;Mignarri;J Inherit Metab Dis,2014
4. Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series;Zádori;Neurol Sci,2017
5. Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ∼60,000 human exomes;Appadurai;Mol Genet Metab,2015
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1. Rare genetic cerebrotendinous xanthomatosis (CTX) cases without cholestanol elevation but with prominent cholesterol-rich tendon xanthomas;Journal of Clinical Lipidology;2024-07
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