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注意:仅列出部分参考文献,下载原文获取全部文献信息。Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis
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The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression
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Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment
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Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ∼60,000 human exomes
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Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene
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