Literature DB >> 10931421

Glycogen storage disease type Ib without neutropenia.

S Kure1, D C Hou, Y Suzuki, A Yamagishi, M Hiratsuka, T Fukuda, H Sugie, N Kondo, Y Matsubara, K Narisawa.   

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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Year:  2000        PMID： 10931421     DOI： 10.1067/mpd.2000.107472

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  19 in total

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