A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus

Congenital hyperinsulinism (CHI) is the most common cause of neonatal persistent hypoglycemia caused by mutations in nine known genes. Early diagnosis and treatment are important to prevent brain injury. The clinical presentation and response to pharmacological therapy may vary depending on the unde...

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Detalles Bibliográficos
Autores principales: Ünal, Sevim, Gönülal, Deniz, Uçaktürk, Ahmet, Siyah Bilgin, Betül, Flanagan, Sarah E., Gürbüz, Fatih, Tayfun, Meltem, Elmaoğulları, Selin, Araslı, Aslıhan, Demirel, Fatma, Ellard, Sian, Hussain, Khalid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198009/
https://www.ncbi.nlm.nih.gov/pubmed/27181099
http://dx.doi.org/10.4274/jcrpe.2773

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198009/
https://www.ncbi.nlm.nih.gov/pubmed/27181099
http://dx.doi.org/10.4274/jcrpe.2773

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