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http://dx.doi.org/10.3345/kjp.2009.52.12.1383

A case of glycogen storage disease type Ib  

Kim, Moon-Sun (Department of Pediatrics Catholic University of Daegu School of Medicine)
Park, Jae-Bok (Department of Pathology, Catholic University of Daegu School of Medicine)
Ki, Chang-Seok (Department of Laboratory Medicine and Genetics, Samsung Medical Center Sungkyunkwan University School of Medicine)
Kim, Jin-Kyung (Department of Pediatrics Catholic University of Daegu School of Medicine)
Publication Information
Clinical and Experimental Pediatrics / v.52, no.12, 2009 , pp. 1383-1387 More about this Journal
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 $500/{\mu}L$ 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).
Keywords
Glycogen storage disease type Ib; Glucose-6-phosphate translocase; Neutropenia;
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