1.
J Pediatr
; 137(2): 253-6, 2000 Aug.
Article
in English
| MEDLINE
| ID: mdl-10931421
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.