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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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2018-10-01
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| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/907 |
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