A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction.

Autor: Martens, D., Kuijpers, T., Maianski, N., Rake, J., Smit, G., Visser, G.
Zdroj: Journal of Inherited Metabolic Disease; Feb2006, Vol. 29 Issue 1, p224-225, 2p
Abstrakt: 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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