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  • Title: Neutropenia and impaired neutrophil function in glycogenosis type Ib.
    Author: Di Rocco M, Borrone C, Dallegri F, Frumento G, Patrone F.
    Journal: J Inherit Metab Dis; 1984; 7(4):151-4. PubMed ID: 6098781.
    Abstract:
    The impairment of different neutrophil functions has recently been reported in some patients with glycogenosis Ib and neutropenia. However, no satisfactory explanation for these findings has so far been supplied. In order to investigate this problem, we have studied neutrophil functions (random locomotion and chemotaxis, O-2 release, [1-14C]glucose oxidation and cellular cytotoxicity) in two further patients with glycogenosis Ib and neutropenia. The results show that neutrophil dysfunctions related to the involvement of both hexose monophosphate shunt and anaerobic glycolysis were variable. The heterogeneity of neutrophil functional impairment in glycogenosis Ib and their possible relationship with the basic metabolic defect of the disease are discussed.
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