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Cerebrotendinous xanthomatosis: A report of 3 cases.

作者信息

Saussy Katharine, Jain Neelesh, Murina Andrea

机构信息

Department of Dermatology, Tulane University School of Medicine, New Orleans, Louisiana.

出版信息

JAAD Case Rep. 2020 Oct 16;6(12):1205-1207. doi: 10.1016/j.jdcr.2020.10.012. eCollection 2020 Dec.

DOI:10.1016/j.jdcr.2020.10.012
PMID:33294542
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7695813/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f4d/7695813/f7299dc727f8/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f4d/7695813/1e93df6a9d32/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f4d/7695813/cbfcee1e0986/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f4d/7695813/f7299dc727f8/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f4d/7695813/1e93df6a9d32/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f4d/7695813/cbfcee1e0986/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f4d/7695813/f7299dc727f8/gr3.jpg

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Cerebrotendinous xanthomatosis.
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[Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects].[脑腱黄瘤病:15例成人患者的多中心回顾性研究,临床及辅助检查的典型与非典型表现]
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mutation in a case of cerebrotendinous xanthomatosis: A case report.脑腱黄瘤病一例的突变:病例报告
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本文引用的文献

1
Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis.43 例脑腱黄瘤病的诊断、治疗和临床转归。
J Clin Lipidol. 2018 Sep-Oct;12(5):1169-1178. doi: 10.1016/j.jacl.2018.06.008. Epub 2018 Jun 22.
2
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).脑腱性黄瘤病(CTX)的流行病学、诊断和治疗。
J Inherit Metab Dis. 2017 Nov;40(6):771-781. doi: 10.1007/s10545-017-0093-8. Epub 2017 Oct 4.
3
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis.
脑腱性黄瘤病早期诊断与治疗的疑似指数
J Inherit Metab Dis. 2014 May;37(3):421-9. doi: 10.1007/s10545-013-9674-3. Epub 2014 Jan 18.
4
Invited article: an MRI-based approach to the diagnosis of white matter disorders.特邀文章:基于磁共振成像的白质疾病诊断方法
Neurology. 2009 Feb 24;72(8):750-9. doi: 10.1212/01.wnl.0000343049.00540.c8.
5
Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy.脑腱黄瘤病:临床表现、诊断标准、发病机制及治疗
J Child Neurol. 2003 Sep;18(9):633-8. doi: 10.1177/08830738030180091001.
6
Cerebrotendinous xanthomatosis.脑腱黄瘤病
J Am Acad Dermatol. 2001 Aug;45(2):292-5. doi: 10.1067/mjd.2001.113690.