학술논문
Glycogen storage disease type Ib without neutropenia
Document Type
Academic Journal
Author
Source
The Journal of Pediatrics. Aug 01, 2000 137(2):253-256
Subject
Language
English
ISSN
0022-3476
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. (J Pediatr 2000;137:253-6)