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Quantitative determination of cholestanol in plasma with mass fragmentography. Biochemical diagnosis of cerebrotendinous xanthomatosis.

作者信息

Seyama Y, Ichikawa K, Yamakawa T

出版信息

J Biochem. 1976 Aug;80(2):223-8. doi: 10.1093/oxfordjournals.jbchem.a131268.

DOI:10.1093/oxfordjournals.jbchem.a131268
PMID:794060
Abstract

A simple, sensitive, and accurate method for determination of cholestanol in plasma is described. In this method a fixed amount of cholestane is added to 1 ml of plasma as an internal standard and steroids are saponified and extracted with n-hexane. The amounts of cholestanol and cholesterol are determined by mass fragmentography by monitoring the intensities of m/e 306, m/e 329, and m/e 372 fragment ions. The relative standard deviation of results for cholestanol was about 6.3%. The cholestanol concentrations in the plasma, erythrocyte stroma, and plasma lipoproteins of three patients with cerebrotendinous xanthomatosis were determined by this method.

摘要

相似文献

1
Quantitative determination of cholestanol in plasma with mass fragmentography. Biochemical diagnosis of cerebrotendinous xanthomatosis.
J Biochem. 1976 Aug;80(2):223-8. doi: 10.1093/oxfordjournals.jbchem.a131268.
2
Biochemical diagnosis of cerebrotendinous xanthomatosis using reversed phase thin layer chromatography.使用反相薄层色谱法对脑腱性黄瘤病进行生化诊断。
J Biochem. 1986 Mar;99(3):771-5. doi: 10.1093/oxfordjournals.jbchem.a135536.
3
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.
4
Simplified determination of cholestanol in serum by gas-liquid chromatography: biochemical diagnosis of cerebrotendinous xanthomatosis.
J Biochem. 1981 Jul;90(1):17-21. doi: 10.1093/oxfordjournals.jbchem.a133447.
5
Increased concentrations of cholestanol and apolipoprotein B in the cerebrospinal fluid of patients with cerebrotendinous xanthomatosis. Effect of chenodeoxycholic acid.脑腱黄瘤病患者脑脊液中胆甾烷醇和载脂蛋白B浓度升高。鹅去氧胆酸的作用。
N Engl J Med. 1987 May 14;316(20):1233-8. doi: 10.1056/NEJM198705143162002.
6
Stable isotope dilution assay for 5 beta-cholestane-3 alpha,7 alpha,12 alpha,25-tetrol and 5 beta-cholestane-3 alpha,7 alpha,12 alpha,23,25-pentol in human serum using [26,27-D6] labeled internal standards; a highly accurate approach to the serological diagnosis of cerebrotendinous xanthomatosis.
Clin Chim Acta. 1991 May 31;199(1):83-9. doi: 10.1016/0009-8981(91)90011-z.
7
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.
8
Comparative effects of lovastatin and chenodeoxycholic acid on plasma cholestanol levels and abnormal bile acid metabolism in cerebrotendinous xanthomatosis.洛伐他汀与鹅去氧胆酸对脑腱黄瘤病患者血浆胆甾烷醇水平及胆汁酸代谢异常的比较效果
Metabolism. 1994 Aug;43(8):1018-22. doi: 10.1016/0026-0495(94)90183-x.
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
Isotopomer spectral analysis of intermediates of cholesterol synthesis in patients with cerebrotendinous xanthomatosis.脑腱黄瘤病患者胆固醇合成中间体的同位素异构体光谱分析。
Metabolism. 2005 Mar;54(3):335-44. doi: 10.1016/j.metabol.2004.09.013.

引用本文的文献

1
Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics.以色列德鲁兹人中的脑腱黄瘤病:分子遗传学与表型特征
Am J Hum Genet. 1994 Nov;55(5):907-15.
2
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.