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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Bülent Hacıhamdioğlu, Gamze Özgürhan, Bahar Çaran, Evrim Meydan-Aksanlı, Ece Keskin
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Hacettepe University Institute of Child Health 2018-10-01
Цуврал:	The Turkish Journal of Pediatrics
Нөхцлүүд:	glycogen storage disease type 0 glycogen synthase 2 gene ketotic hypoglycemia
Онлайн хандалт:	https://turkjpediatr.org/article/view/907
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!