Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia

Glycogen storage disease type 0 (GSD0) has been considered a rare disorder, it is characterized with ketotic hypoglycemia after prolonged fasting and postprandial hyperglycemia. Herein, we report a novel mutation in the glycogen synthase 2 gene in a Turkish child, as well as her clinical characteri...

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發表在:	The Turkish Journal of Pediatrics
Main Authors:	Bülent Hacıhamdioğlu, Gamze Özgürhan, Bahar Çaran, Evrim Meydan-Aksanlı, Ece Keskin
格式:	Article
語言:	英语
出版:	Hacettepe University Institute of Child Health 2018-10-01
主題:	glycogen storage disease type 0 glycogen synthase 2 gene ketotic hypoglycemia
在線閱讀:	https://turkjpediatr.org/article/view/907