Identification of an ABCC8 variant in a kindred with transient diazoxide responsive hyperinsulinism
Congenital hyperinsulinism is a rare disorder characterized by hypoglycemia and inappropriately elevated insulin levels. The genetics of congenital hyperinsulinism is complex, with the most common cause being pathogenic variants in the ATP-sensitive potassium channel. Depending on the parent of orig...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2025-07-01
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| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Subjects: | |
| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2025/3/EDM-24-0106.xml |
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