Glycogen storage disease type Ib without neutropenia

Shigeo Kure, Dian Chang Hou, Yasuyuki Suzuki, Atsushi Yamagishi, Masahiro Hiratsuka, Tokiko Fukuda, Hideo Sugie, Naomi Kondo, Yoichi Matsubara, Kuniaki Narisawa

Research output: Contribution to journalArticlepeer-review

39 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)253-256
Number of pages4
JournalJournal of Pediatrics
Issue number2
Publication statusPublished - 2000


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