Development of liver disease despite mannose treatment in two patients with CDG-Ib
Development of liver disease despite mannose treatment in two patients with CDG-Ib
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DOI：
10.1016/j.ymgme.2007.08.126
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发表时间：
2008-01-01
影响因子：
3.8
通讯作者：
de Lonlay, P.
中科院分区：
文献类型：
--
作者：
Mention, K.;Lacaille, F.;de Lonlay, P.
我们在此报告了两名 2 个月大时诊断为 CDG-Ib 的患者的 6 年和 2 年随访情况，他们接受甘露糖治疗，出现消化系统症状、肝脏受累和高胰岛素性低血糖。两人均出现肝纤维化，但一般情况有所改善，其他症状消失。 (C) 2007 Elsevier Inc. 保留所有权利。
We report here the 6- and 2-year follow-up of two patients diagnosed at 2 months of age with CDG-Ib who were treated with mannose, with digestive symptoms, liver involvement and hyperinsulinemic hypoglycaemia. Both developed liver fibrosis while general condition improved and other symptoms disappeared. (C) 2007 Elsevier Inc. All rights reserved.