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Case Reports
Journal Article
A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction.
Journal of Inherited Metabolic Disease 2006 Februrary
We describe a 16-year old boy with glycogen storage disease type Ib, homozygous for the common 1211-1212delCT mutation, who never experienced neutropenia, and did not suffer from frequent infections or inflammatory bowel disease. In addition, neutrophil function tests showed no abnormalities.
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