一名先天性糖基化障碍（CDG）IIx患者的临床和生化特征
Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx.
作者信息
Miura Yoshiaki, Tay Stacey K H, Aw Marion M, Eklund Erik A, Freeze Hudson H
机构信息
Burnham Institute, Program for Glycobiology and Carbohydrate Chemistry, La Jolla, Calif 92037, USA.
出版信息
J Pediatr. 2005 Dec;147(6):851-3. doi: 10.1016/j.jpeds.2005.07.038.
PMID:16356446
Abstract
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.
摘要
我们描述了一例患有慢性腹泻、进行性肝硬化和反复感染的先天性糖基化障碍病例。转铁蛋白分析仅显示低唾液酸化，但总血清N-聚糖分析表明还有其他糖类缺失，这表明后者能为寻找原发性缺陷提供更丰富的信息。
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