先天性糖化作用障碍(CDG-Ⅱx)患者的临床和生化特征

查看全文 作　　者：Miura Y.;Tay S.K.H.;Aw M.M.;H.H. [1]Freeze;虎小毅 机构地区：[1]Burnham Institute, Program for Glycobiology and Carbohydrate Chemistry, 10901 N Torrey Pines Rd, San Diego, CA 92037, United States Dr. 出　　处：《世界核心医学期刊文摘(儿科学分册)》索引2006年第2卷第6期,共1页 摘　　要：We describe a case of congenital disorder of glycosylation with chronic diarrhea, progressive liver cirrhosis, and recurrent infections. Transferrin analysis showed only hyposialylation, but analysis of total serum N-glycans indicated loss of additional sugars, arguing that the latter generates a more informative picture to search for the primary defect. 关 键 词：糖化作用 先天性 生化特征 障碍 患者 临床 慢性腹泻 唾液酸化 蛋白分析 多发性