Cerebrotendinous xanthomatosis: more on diagnosis and treatment.
作者信息
Waterreus R J, Koopman B J
出版信息
Neurology. 1987 Jun;37(6):1091-2. doi: 10.1212/wnl.37.6.1091-a.
PMID:3587638
Abstract
摘要
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Cerebrotendinous xanthomatosis: more on diagnosis and treatment.脑腱性黄瘤病：更多关于诊断与治疗的内容
Neurology. 1987 Jun;37(6):1091-2. doi: 10.1212/wnl.37.6.1091-a.
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[Congenital disorders of the bile acid metabolism (3 beta-hydroxy-delta 5-steroid dehydrogenase/isomerase deficiency, delta 4-3-oxosteroid 5 beta-reductase deficiency, cerebrotendinous xanthomatosis, and peroxisomal disorders].[先天性胆汁酸代谢障碍（3β-羟基-δ5-类固醇脱氢酶/异构酶缺乏症、δ4-3-氧代类固醇5β-还原酶缺乏症、脑腱黄瘤病和过氧化物酶体疾病）]
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[Cerebrotendinous xanthomatosis].[脑腱性黄瘤病]
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Identification of 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 25, 26-pentol in cerebrotendinous xanthomatosis.脑腱黄瘤病中5β-胆甾烷-3α、7α、12α、25、26-戊醇的鉴定。
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Biosynthesis of bile acids in cerebrotendinous xanthomatosis. Relationship of bile acid pool sizes and synthesis rates to hydroxylations at C-12, C-25, and C-26.脑腱黄瘤病中胆汁酸的生物合成。胆汁酸池大小和合成速率与C-12、C-25和C-26位羟基化的关系。
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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.
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