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.
Abstract
摘要
相似文献
1
Cerebrotendinous xanthomatosis: biochemical response to inhibition of cholesterol synthesis.
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].
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.
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.
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.
9
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.
N Engl J Med. 1987 May 14;316(20):1233-8. doi: 10.1056/NEJM198705143162002.
引用本文的文献
1
Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia.
Mol Genet Metab Rep. 2025 Jan 13;42:101188. doi: 10.1016/j.ymgmr.2025.101188. eCollection 2025 Mar.
2
Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review.
Brain Sci. 2023 Jun 22;13(7):979. doi: 10.3390/brainsci13070979.
3
Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments.
J Atheroscler Thromb. 2021 Sep 1;28(9):905-925. doi: 10.5551/jat.RV17055. Epub 2021 May 8.
4
Late-onset spinal form xanthomatosis without brain lesion: a case report.
BMC Neurol. 2016 Feb 9;16:21. doi: 10.1186/s12883-016-0542-2.
5
Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion.
J Spinal Cord Med. 2016 Nov;39(6):726-729. doi: 10.1179/1079026815Z.000000000409. Epub 2016 Feb 25.
6
Cerebrotendinous xanthomatosis: a review of biochemical findings of the patient population in The Netherlands.
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.
J Clin Invest. 1980 Jun;65(6):1418-30. doi: 10.1172/JCI109806.
2
Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.
J Lipid Res. 1982 May;23(4):627-30.
3
Subcellular distribution of cerebral cholestanol in cerebrotendinous xanthomatosis.
J Neurochem. 1971 Mar;18(3):403-13. doi: 10.1111/j.1471-4159.1971.tb11968.x.
Zotero 插件