Article
Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.
Pediatric research - 1 Sept 2000
Weston B W, Lin J L, Muenzer J, Cameron H S, Arnold R R, Seydewitz H H, Mayatepek E, Van Schaftingen E, Veiga-da-Cunha M, Matern D, Chen Y T
Abstract excerpt
Glycogen storage disease type 1a (GSD 1a) is caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase). A variant (GSD 1b) is caused by a defect in the transport of glucose-6-phosphate (G6P) into the microsome and is associated with chronic neutropenia and neutrophil dysfunction. Mutually exclusive mutations in the G6Pase gene and the G6P transport gene establish GSD la and GSD 1b as independent...
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