Glycogen storage disease type Ib without neutropenia

被引：40

作者：

Kure, S

Hou, DC

Suzuki, Y

Yamagishi, A

Hiratsuka, M

Fukuda, T

Sugie, H

Kondo, N

Matsubara, Y

Narisawa, K

机构：

[1] Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, Japan

[2] Gifu Univ, Sch Med, Dept Pediat, Gifu 500, Japan

[3] Hamamatsu City Med Ctr Dev Med, Dept Pediat Neurol, Hamamatsu, Shizuoka, Japan

[4] Hamamatsu City Med Ctr Dev Med, Neuromuscular Lab, Hamamatsu, Shizuoka, Japan

来源：

JOURNAL OF PEDIATRICS | 2000年 / 137卷 / 02期

关键词：

D O I：

10.1067/mpd.2000.107472

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report 2 patients with atypical glycogen storage disease type Ib without neutropenia or infectious complications. Neither patient was deficient in hepatic glucose-6-phosphatase activities in microsome-disrupted homogenates; both had mutations in the glucose-6-phosphate transporter gene, suggesting an allelic variant of glycogen storage disease type Ib.

引用

页码：253 / 256

页数：4

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