文章基本信息

标题：A case of glycogen storage disease type Ib
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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