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Case Report

A case of glycogen storage disease type Ib

Moon-Sun Kim, Jae-Bok Park, Chang-Seok Ki, Jin-Kyung Kim

Clin Exp Pediatr. 2009;52(12):1383-1387. Published online December 15, 2009

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).

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