2000 | Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype | 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. | Pediatr Res 48, 329-334 | | | |
1999 | The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a | Veiga-da-Cunha, M.; Gerin, I.; Chen, Y. T.; Lee, P. J.; Leonard, J. V.; Maire, I.; Wendel, U.; Vikkula, M.; Van Schaftingen, E. | Eur J Hum Genet 7, 717-723 | | | |