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Browsing by Author Van Schaftingen, E.


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Issue DateTitleAuthor(s)RelationscopusWOSFulltext/Archive link
1998A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and IcVeiga-da-Cunha, M.; Gerin, I.; Chen, Y. T.; de Barsy, T.; de Lonlay, P.; Dionisi-Vici, C.; Fenske, C. D.; Lee, P. J.; Leonard, J. V.; Maire, I.; McConkie-Rosell, A.; Schweitzer, S.; Vikkula, M.; Van Schaftingen, E.Am J Hum Genet 63, 976-983
2000Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotypeWeston, 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
1999The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-aVeiga-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
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