Article
Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib.
Blood - 1 May 2014
Jun Hyun Sik, Weinstein David A, Lee Young Mok, Mansfield Brian C, Chou Janice Y
Abstract excerpt
Glycogen storage disease type Ib (GSD-Ib) is an autosomal-recessive syndrome characterized by neutropenia and impaired glucose homeostasis resulting from a deficiency in the glucose-6-phosphate (G6P) transporter (G6PT). The underlying cause of GSD-Ib neutropenia is an enhanced neutrophil apoptosis, but patients also manifest neutrophil dysfunction of unknown etiology. Previously, we showed G6PT interacts with the...
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