Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia
Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia
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DOI：
10.1007/s10545-006-0210-6
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发表时间：
2006-02-01
影响因子：
4.2
通讯作者：
O'Brien, JF
中科院分区：
文献类型：
--
作者：
Hahn, SH;Minnich, SJ;O'Brien, JF
对一名Ia型先天性糖基化障碍患者进行了7年以上的随访，结果显示低糖基化转铁蛋白显著正常化。血清转铁蛋白的等电聚焦是一种广泛应用的筛选方法，但存在检测限和细微变化易被忽略的问题。用不同的方法重新检测是可取的，特别是当临床高度怀疑先天性糖基化障碍时。
A follow-up over 7 years on a patient with congenital disorder of glycosylation type Ia showed a significant normalization of hypoglycosylated transferrin. Isoelectric focusing for serum transferrin is a widely used screening method but there could be a limit of detection and the subtle changes can be also overlooked. Re-test with a different method is desirable, especially when the clinical suspicion for congenital disorder of glycosylation is high.