[27-Hydroxylase deficiency (cerebrotendinous xanthomatosis)].
作者信息
Miyamoto K, Setoguchi T
机构信息
Department of Surgery 1, Miyazaki Medical College.
出版信息
Ryoikibetsu Shokogun Shirizu. 1998(19 Pt 2):285-8.
PMID:9645063
Abstract
摘要
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[27-Hydroxylase deficiency (cerebrotendinous xanthomatosis)].
Ryoikibetsu Shokogun Shirizu. 1998(19 Pt 2):285-8.
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Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27-hydroxylase gene.固醇27-羟化酶基因缺失小鼠的胆汁酸合成显著减少，但胆固醇和维生素D代谢产物水平维持不变。
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Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis.基因分析能够明确且快速地诊断脑腱性黄瘤病。
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