Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities

被引：17

作者：

Acarregui, MJ ^{[1
]}

George, TN ^{[1
]}

Rhead, WJ ^{[1
]}

机构：

[1] Univ Iowa, Dept Pediat, Coll Med, Iowa City, IA 52242 USA

来源：

JOURNAL OF PEDIATRICS | 1998年 / 133卷 / 05期

关键词：

D O I：

10.1016/S0022-3476(98)70115-5

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report siblings with a variant of carbohydrate-deficient glycoprotein syndrome, type 1 (CDGS1), characterized by normal phosphomannomutase and phosphomannose isomerase activities, severe thrombocytopenia, and respiratory compromise. Each infant died after a course of intensive care, suggesting that infants with CDGS1 and normal phosphomannomutase and phosphomannose isomerase activities may have a more severe CDGS1 phenotype.

引用

页码：697 / 700

页数：4

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