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遗传性血脂蛋白异常血症——1990年疾病分类学更新

The genetic dyslipoproteinemias--nosology update 1990.

作者信息

Schonfeld G

机构信息

Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110.

出版信息

Atherosclerosis. 1990 Mar;81(2):81-93. doi: 10.1016/0021-9150(90)90014-a.

Abstract

The number of discrete disorders of lipid transport is growing. Concomitantly, the classification of the disorders is changing, from one based on altered concentrations of lipoproteins, to one based on current understanding of the genetics of the disorders and of lipoprotein biochemistry and physiology. Many disorders are now traceable to deficiencies of essential proteins such as apolipoproteins, enzymes, lipid transfer proteins and cellular receptors.

摘要

脂质转运的离散性疾病数量正在增加。与此同时,这些疾病的分类也在发生变化,从基于脂蛋白浓度改变的分类,转变为基于目前对疾病遗传学以及脂蛋白生物化学和生理学的理解的分类。现在,许多疾病可追溯到必需蛋白质的缺乏,如载脂蛋白、酶、脂质转运蛋白和细胞受体。

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