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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Detalles Bibliográficos
Autores principales: Park, Ji Sook, Lee, Hong-Jun, Park, Chan-Hoo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177692/
https://www.ncbi.nlm.nih.gov/pubmed/28018462
http://dx.doi.org/10.3345/kjp.2016.59.11.S116

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177692/
https://www.ncbi.nlm.nih.gov/pubmed/28018462
http://dx.doi.org/10.3345/kjp.2016.59.11.S116

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