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- W2130165265 abstract "= Abstract = 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). (Korean J Pediatr 2009;52:1383-1387)" @default.
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- W2130165265 date "2009-01-01" @default.
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- W2130165265 title "A case of glycogen storage disease type Ib" @default.
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- W2130165265 doi "https://doi.org/10.3345/kjp.2009.52.12.1383" @default.
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