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Cerebrotendinous xanthomatosis: biochemical response to inhibition of cholesterol synthesis.

作者信息

Lewis B, Mitchell W D, Marenah C B, Cortese C, Reynolds E H, Shakir R

出版信息

Br Med J (Clin Res Ed). 1983 Jul 2;287(6384):21-2. doi: 10.1136/bmj.287.6384.21-a.

DOI:10.1136/bmj.287.6384.21-a
PMID:6407679
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1548166/
Abstract
摘要

相似文献

1
Cerebrotendinous xanthomatosis: biochemical response to inhibition of cholesterol synthesis.脑腱黄瘤病:胆固醇合成抑制的生化反应
Br Med J (Clin Res Ed). 1983 Jul 2;287(6384):21-2. doi: 10.1136/bmj.287.6384.21-a.
2
[Timely treatment of cerebrotendinous xanthomatosis, a hereditary disorder of cholesterol metabolism].[脑腱黄瘤病(一种胆固醇代谢遗传性疾病)的及时治疗]
Ned Tijdschr Geneeskd. 1984 Aug 25;128(34):1604-7.
3
Cerebrotendinous xanthomatosis: treatments with simvastatin, lovastatin, and chenodeoxycholic acid in 3 siblings.
Neurology. 1991 Mar;41(3):434-6. doi: 10.1212/wnl.41.3.434.
4
Combined treatment with chenodeoxycholic acid and pravastatin improves plasma cholestanol levels associated with marked regression of tendon xanthomas in cerebrotendinous xanthomatosis.鹅去氧胆酸和普伐他汀联合治疗可改善脑腱性黄瘤病患者的血浆胆甾烷醇水平,并使肌腱黄瘤明显消退。
Metabolism. 1991 Jul;40(7):741-6. doi: 10.1016/0026-0495(91)90094-d.
5
[Cerebrotendinous xanthomatosis].
Zh Nevropatol Psikhiatr Im S S Korsakova. 1992;92(4):13-22.
6
[Cerebrotendinous xanthomatosis: long-term treatment with chenodesoxycholic acid (author's transl)].
Nouv Presse Med. 1982 Mar 6;11(11):855-7.
7
Case of cerebrotendinous xanthomatosis. I: Unusual ophthalmic features.脑腱黄瘤病病例。I:不寻常的眼科特征。
Br J Ophthalmol. 1989 Dec;73(12):1011-4. doi: 10.1136/bjo.73.12.1011.
8
Treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid.
Ann Neurol. 1985 Oct;18(4):517-8. doi: 10.1002/ana.410180418.
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Biochemical abnormalities in cerebrotendinous xanthomatosis.
Dev Neurosci. 1991;13(4-5):363-70. doi: 10.1159/000112186.
10
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.

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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。
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Late-onset spinal form xanthomatosis without brain lesion: a case report.无脑部病变的迟发性脊髓型黄瘤病:一例报告
BMC Neurol. 2016 Feb 9;16:21. doi: 10.1186/s12883-016-0542-2.
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Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion.患有长脊髓病变的脊髓型脑腱黄瘤病患者。
J Spinal Cord Med. 2016 Nov;39(6):726-729. doi: 10.1179/1079026815Z.000000000409. Epub 2016 Feb 25.
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Cerebrotendinous xanthomatosis: a review of biochemical findings of the patient population in The Netherlands.脑腱黄瘤病:荷兰患者群体的生化检查结果综述
J Inherit Metab Dis. 1988;11(1):56-75. doi: 10.1007/BF01800057.

本文引用的文献

1
Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid.脑腱黄瘤病:正常胆汁酸生物合成所需的线粒体26-羟化缺陷。
J Clin Invest. 1980 Jun;65(6):1418-30. doi: 10.1172/JCI109806.
2
Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.脑腱黄瘤病:血清26 - 羟基胆固醇降低
J Lipid Res. 1982 May;23(4):627-30.
3
Subcellular distribution of cerebral cholestanol in cerebrotendinous xanthomatosis.脑腱黄瘤病中脑胆固醇的亚细胞分布
J Neurochem. 1971 Mar;18(3):403-13. doi: 10.1111/j.1471-4159.1971.tb11968.x.