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Case Reports
. 2000 Aug;137(2):253-6.
doi: 10.1067/mpd.2000.107472.

Glycogen storage disease type Ib without neutropenia

S Kure  1 , D C Hou, Y Suzuki, A Yamagishi, M Hiratsuka, T Fukuda, H Sugie, N Kondo, Y Matsubara, K Narisawa
Affiliations
Case Reports

Glycogen storage disease type Ib without neutropenia

S Kure et al. J Pediatr. 2000 Aug.

Abstract

We report 2 patients with atypical glycogen storage disease type Ib without neutropenia or infectious complications. Neither patient was deficient in hepatic glucose-6-phosphatase activities in microsome-disrupted homogenates; both had mutations in the glucose-6-phosphate transporter gene, suggesting an allelic variant of glycogen storage disease type Ib.

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