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A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism
Congenital hyperinsulinism (CHI) is a rare condition that can cause irreversible brain damage during the neonatal period owing to the associated hypoglycemia. Hypoglycemia in CHI occurs secondary to the dysregulation of insulin secretion. CHI has been established as a genetic disorder of islet-cell...
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| Publicado en: | Korean J Pediatr |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
The Korean Pediatric Society
2016
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5177692/ https://ncbi.nlm.nih.gov/pubmed/28018462 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2016.59.11.S116 |
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