• 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

相似文献

1
A case of cerebrotendinous xanthomatosis. II: The sterol content of a cataractous lens.脑腱黄瘤病一例。II：白内障晶状体的固醇含量
Br J Ophthalmol. 1990 Oct;74(10):629-30. doi: 10.1136/bjo.74.10.629.
2
The metabolism of cholestanol, cholesterol, and bile acids in cerebrotendinous xanthomatosis.脑腱黄瘤病中胆甾烷醇、胆固醇和胆汁酸的代谢
J Clin Invest. 1973 Nov;52(11):2822-35. doi: 10.1172/JCI107478.
3
Transformation of 4-cholesten-3-one and 7 alpha-hydroxy-4-cholesten-3-one into cholestanol and bile acids in cerebrotendinous xanthomatosis.脑腱黄瘤病中4-胆甾烯-3-酮和7α-羟基-4-胆甾烯-3-酮向胆甾烷醇和胆汁酸的转化
Gastroenterology. 1984 Aug;87(2):276-83.
4
Isolation of 5 alpha-cholestane-3 beta, 7 alpha-diol from bile of patients with cerebrotendinous xanthomatosis. Inefficiency of this steroid as a precursor to cholestanol.从脑腱性黄瘤病患者胆汁中分离出5α-胆甾烷-3β,7α-二醇。该类固醇作为胆甾烷醇前体的无效性。
Biochim Biophys Acta. 1983 Sep 20;753(2):220-6.
5
High levels of plant sterols and cholesterol precursors in cerebrotendinous xanthomatosis.脑腱黄瘤病中植物甾醇和胆固醇前体水平升高。
J Lipid Res. 1991 Feb;32(2):223-9.
6
Biosynthesis of 5 -cholestan-3 -ol in cerebrotendinous xanthomatosis.脑腱性黄瘤病中5-胆甾烷-3-醇的生物合成
J Clin Invest. 1972 Jan;51(1):134-40. doi: 10.1172/JCI106783.
7
[Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis].[一种罕见的先天性神经退行性疾病：脑腱黄瘤病的实验室诊断]
Orv Hetil. 2014 May 25;155(21):811-6. doi: 10.1556/OH.2014.29887.
8
A novel route for the biosynthesis of cholestanol, and its significance for the pathogenesis of cerebrotendinous xanthomatosis.一种新的胆甾烷生物合成途径及其在脑腱黄瘤病发病机制中的意义。
Scand J Clin Lab Invest Suppl. 1985;177:15-21.
9
A novel pathway for biosynthesis of cholestanol with 7 alpha-hydroxylated C27-steroids as intermediates, and its importance for the accumulation of cholestanol in cerebrotendinous xanthomatosis.以7α-羟基化C27-甾体为中间体的胆甾烷醇生物合成新途径及其在脑腱性黄瘤病中胆甾烷醇积累的重要性。
J Clin Invest. 1985 Feb;75(2):448-55. doi: 10.1172/JCI111719.
10
Capillary gas chromatographic determination of cholestanol/cholesterol ratio in biological fluids. Its potential usefulness for the follow-up of some liver diseases and its lack of specificity in diagnosing CTX (cerebrotendinous xanthomatosis).生物体液中胆甾烷醇/胆固醇比值的毛细管气相色谱测定。其在某些肝脏疾病随访中的潜在用途及其在诊断脑腱性黄瘤病（CTX）方面缺乏特异性。
Clin Chim Acta. 1984 Mar 13;137(3):305-15. doi: 10.1016/0009-8981(84)90119-0.

引用本文的文献

1
Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features.常染色体隐性遗传性小脑性共济失调：基于眼部特征的诊断分类方法
Front Integr Neurosci. 2024 Feb 7;17:1275794. doi: 10.3389/fnint.2023.1275794. eCollection 2023.
2
Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments.脑腱性黄瘤病：分子发病机制、临床谱、诊断和疾病修饰治疗。
J Atheroscler Thromb. 2021 Sep 1;28(9):905-925. doi: 10.5551/jat.RV17055. Epub 2021 May 8.
3
Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings.脑腱黄瘤病：临床表型的异质性及先前未描述的眼科检查结果证据
J Inherit Metab Dis. 2001 Dec;24(7):696-706. doi: 10.1023/a:1012981019336.

本文引用的文献

1
A simple method for the isolation and purification of total lipides from animal tissues.一种从动物组织中分离和纯化总脂质的简单方法。
J Biol Chem. 1957 May;226(1):497-509.
2
Abnormal high density lipoproteins in cerebrotendinous xanthomatosis.脑腱黄瘤病中的异常高密度脂蛋白。
J Clin Invest. 1981 Nov;68(5):1295-304. doi: 10.1172/jci110376.
3
Lipoproteins and lipids in cow and human aqueous humor.牛和人房水中的脂蛋白与脂质
Biochim Biophys Acta. 1984 May 11;793(3):448-54. doi: 10.1016/0005-2760(84)90262-5.
4
Cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous system.脑腱性黄瘤病。神经系统内胆甾烷醇的蓄积。
Arch Neurol. 1968 Jul;19(1):47-53. doi: 10.1001/archneur.1968.00480010065004.
5
Cholestanolosis (cerebrotendinous xanthomatosis). A follow-up study on the original family.胆甾烷醇增多症（脑腱黄瘤病）。对原家族的随访研究。
Arch Neurol. 1969 Dec;21(6):603-10. doi: 10.1001/archneur.1969.00480180059004.
6
Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism.脑腱性黄瘤病中的胆甾烷醇沉积。一种可能的机制。
Ann Intern Med. 1971 Dec;75(6):843-51. doi: 10.7326/0003-4819-75-6-843.
7
Determination of hepatic cholesterol 7alpha-hydroxylase activity in man.人体肝脏胆固醇7α-羟化酶活性的测定
J Lipid Res. 1974 Mar;15(2):146-51.
8
A biochemical abnormality in cerebrotendinous xanthomatosis. Impairment of bile acid biosynthesis associated with incomplete degradation of the cholesterol side chain.脑腱黄瘤病中的一种生化异常。胆汁酸生物合成受损，与胆固醇侧链不完全降解相关。
J Clin Invest. 1974 May;53(5):1393-401. doi: 10.1172/JCI107688.
9
The metabolism of cholestanol, cholesterol, and bile acids in cerebrotendinous xanthomatosis.脑腱黄瘤病中胆甾烷醇、胆固醇和胆汁酸的代谢
J Clin Invest. 1973 Nov;52(11):2822-35. doi: 10.1172/JCI107478.
10
Myotonia induced by diazacholesterol: increased (Na+ + K+)-ATPase activity of erythrocyte ghosts and development of cataracts.
Exp Neurol. 1973 Dec;41(3):738-44. doi: 10.1016/0014-4886(73)90064-2.

脑腱黄瘤病一例。II：白内障晶状体的固醇含量

A case of cerebrotendinous xanthomatosis. II: The sterol content of a cataractous lens.

作者信息

McKenna P, Morgan S J, Bosanquet R C, Laker M F

机构信息

Department of Clinical Biochemistry, Royal Victoria Infirmary, Newcastle upon Tyne.

出版信息

Br J Ophthalmol. 1990 Oct;74(10):629-30. doi: 10.1136/bjo.74.10.629.

DOI:10.1136/bjo.74.10.629
PMID:2285688
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1042235/
Abstract

The cholestanol content of a cataractous lens nucleus from a patient with cerebrotendinous xanthomatosis (CTX) was quantified by gas chromatography-mass spectrometry and found to be 0.27 micrograms per mg freeze-dried lens tissue. The cholestanol-cholesterol ratio of 1.7% in the lens nucleus was similar to that in the serum of the CTX patient. The cholestanol content and cholestanol-cholesterol ratio in the CTX lens were approximately four-fold and six-fold greater respectively than the mean levels found in three senile cataractous lens nuclei analysed simultaneously for comparative purposes.

摘要

采用气相色谱-质谱联用法定量分析了一名患有脑腱性黄瘤病（CTX）患者的白内障晶状体核中的胆甾烷醇含量，结果发现为每毫克冻干晶状体组织0.27微克。晶状体核中1.7%的胆甾烷醇-胆固醇比率与该CTX患者血清中的比率相似。为作比较同时分析了三个老年性白内障晶状体核，CTX晶状体中的胆甾烷醇含量和胆甾烷醇-胆固醇比率分别比其平均水平大约高四倍和六倍。