• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene.

作者信息

Jiao H, Olin M, Hansson M, Eggertsen G, Eriksson M, Angelin B, Björkhem I

机构信息

Clinical Research Centre, Department of Biosciences and Nutrition, Karolinska Institutet at Karolinska University Hospital, Huddinge, Sweden.

Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital, Huddinge, Sweden.

出版信息

J Intern Med. 2018 Jun;283(6):604-606. doi: 10.1111/joim.12709. Epub 2017 Nov 28.

DOI:10.1111/joim.12709
PMID:29095540
Abstract
摘要

相似文献

1
Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene.脑腱黄瘤病罕见病例再探讨：导致该病的所有突变均存在于CYP27A1基因中。
J Intern Med. 2018 Jun;283(6):604-606. doi: 10.1111/joim.12709. Epub 2017 Nov 28.
2
A new CYP27A1 mutation in a case of cerebrotendinous xanthomatosis.脑腱黄瘤病一例中的新型CYP27A1突变
Neurologia (Engl Ed). 2023 Jun;38(5):375-378. doi: 10.1016/j.nrleng.2022.02.001.
3
A compound heterozygous mutation of CYP27A1 gene in a Taiwanese patient with cerebrotendinous xanthomatosis.
J Orthop Sci. 2011 Nov;16(6):825-7. doi: 10.1007/s00776-011-0072-0. Epub 2011 May 7.
4
Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: Report of a novel CYP27A1 mutation and literature review.台湾脑腱黄瘤病的临床与分子遗传学特征：报道一例新的 CYP27A1 突变并文献复习
J Clin Lipidol. 2019 Nov-Dec;13(6):954-959.e1. doi: 10.1016/j.jacl.2019.10.001. Epub 2019 Oct 10.
5
Mutation analysis of cerebrotendinous xanthomatosis in an Indian case.
Neurol India. 2012 Nov-Dec;60(6):643-4. doi: 10.4103/0028-3886.105202.
6
Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous Xanthomatosis.CYP27A1 剪接变异在一个伊朗家族性脑腱黄瘤病患者中的临床和遗传特征。
Iran Biomed J. 2021 Mar 1;25(2):132-9. doi: 10.29252/ibj.25.2.132.
7
2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis.2 例中国人胆固醇 27-羟化酶基因缺失致脑腱黄瘤病
BMC Neurol. 2011 Oct 21;11:130. doi: 10.1186/1471-2377-11-130.
8
A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis.一个家族性脑腱黄瘤病患者 CYP27A1 基因突变的研究
Int J Neurosci. 2020 Oct;130(10):972-975. doi: 10.1080/00207454.2020.1713774. Epub 2020 Jan 23.
9
Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.中国人家族性脑腱黄瘤病患者的临床及分子遗传学特征。
Metab Brain Dis. 2017 Oct;32(5):1609-1618. doi: 10.1007/s11011-017-0047-8. Epub 2017 Jun 17.
10
Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy.伴有复合杂合子突变和严重多发性神经病的脑腱黄瘤病
Neuropathology. 2007 Feb;27(1):62-6. doi: 10.1111/j.1440-1789.2006.00739.x.

引用本文的文献

1
Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review.经基因检测确诊的脑腱黄瘤病中国患者：病例报告及文献综述
World J Clin Cases. 2020 Nov 6;8(21):5446-5456. doi: 10.12998/wjcc.v8.i21.5446.
2
Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling.因丙泊酚导致 CTX 的误诊：全静脉注射丙泊酚麻醉对胆汁酸谱分析的干扰。
J Inherit Metab Dis. 2020 Jul;43(4):843-851. doi: 10.1002/jimd.12219. Epub 2020 Feb 7.