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KMID : 1130320090520121383
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Korean Journal of Pediatrics
2009 Volume.52 No. 12 p.1383 ~ p.1387
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A case of glycogen storage disease type Ib
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Kim Moon-Sun
Ki Chang-Seok
Kim Jin-Kyung
Park Jae-Bok
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Abstract
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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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KEYWORD
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Glycogen storage disease type Ib, Glucose-6-phosphate translocase, Neutropenia
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