文章基本信息
- 标题：A case of glycogen storage disease type Ib
- 本地全文：下载
- 作者：Kim, Moon-Sun ; Park, Jae-Bok ; Ki, Chang-Seok 等
- 期刊名称：Korean Journal of Pediatrics
- 印刷版ISSN：1738-1061
- 出版年度：2009
- 卷号：52
- 期号：12
- 页码：1383-1387
- DOI：10.3345/kjp.2009.52.12.1383
- 语种：English
- 出版社：The Korean Pediatric Society
- 摘要：
We report a case of an 18-month-old girl with glycogen storage disease type Ib (GSD Ib). Her neutrophil counts had gradually decreased to less than 500/µL by the age of 3 years. However, there were no recurrent bacterial infections. Mutation analysis of the glucose-6-phosphate translocase (G6PT) gene revealed a compound heterozygous missense mutation (Ala148Val/Gly273Asp).
- 关键词：Glycogen storage disease type Ib; Glucose-6-phosphate translocase; Neutropenia
