Basic Research on Congenital Disorders of Glycosylation (CDG)

先天性糖基化障碍（CDG）是由糖蛋白的聚糖生物合成缺陷引起的一大组疾病。为了获得我们的知识，CDG，将存在于未确诊的患者发育迟缓，分子诊断的方法已经开发并引入临床实践。最后，我们在700名患者中发现了7名患者。结果表明，CDG的频率相当高。此外，聚糖分析技术也取得了一些进展。

Congenital Disorders of Glycosylation (CDG) is a large group of diseases caused by defects in glycan biosysthesis of glycoproteins. To obtain our knowledge of CDG that would be present in undiagnosed patients with developmental delay, methods for molecular diagnosis have been developed and introduced to clinical practice. Finally we found seven patients among 700 examined. The result tells us considerably high frequency of CDG. In addition, some technological developments for glycan analysis have been made.