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요약정보
先天性糖基化障碍与肝脏疾病 / Congenital disorders of glycosylation and liver diseases
Resource Type
Academic Journal
Authors
库尔班江·阿布都西库尔
;
王建设
;
ABUDUXIKUER Kuerbanjiang
;
WANG Jianshe
Source
临床肝胆病杂志 / Journal of Clinical Hepatology
. 35(8):1684-1689
Subject
先天性糖基化病
诊断
糖组学
Language
Chinese
ISSN
1001-5256
Online Access
Find it @ DONGA
초록
先天性糖基化障碍(CDG)是近年来快速增长的一组遗传代谢性疾病,由蛋白或脂肪的异常糖基化所致.随着二代测序技术的问世和普及,人类在不断发现新的糖基化相关基因突变导致的疾病.糖蛋白及糖脂合成是肝脏主要功能之一,众多的CDG影响肝胆结构及功能,可导致脂肪肝、肝纤维化及胆管板发育异常.阐述了CDG及相关肝脏病变的发病机制、诊断及治疗等方面的新进展.
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