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遗传性脂质转运障碍

Inherited disorders of lipid transport.

作者信息

Schonfeld G

机构信息

Atherosclerosis and Lipid Research Center, Washington University School of Medicine, St. Louis, Missouri.

出版信息

Endocrinol Metab Clin North Am. 1990 Jun;19(2):229-57.

PMID:2192872
Abstract

The number of well-described discrete disorders of lipid transport is increasing, and the classification of the disorders also is changing, from one based on altered concentrations of classes of lipoproteins, to one based on improved understanding of the genetics of the disorders and of lipoprotein biochemistry and physiology. Many disorders are now traceable to structural defects in or the absence of key proteins such as apolipoproteins, enzymes, lipid transfer proteins, and cellular receptors.

摘要

已被详尽描述的脂质转运离散性疾病的数量正在增加,而且这些疾病的分类也在变化,从基于脂蛋白类别浓度改变的分类,转变为基于对疾病遗传学以及脂蛋白生物化学和生理学有了更深入理解的分类。现在,许多疾病可追溯到关键蛋白质(如载脂蛋白、酶、脂质转运蛋白和细胞受体)的结构缺陷或缺失。

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