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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Foilsithe in:J Clin Res Pediatr Endocrinol
Main Authors: 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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Galenos Publishing 2016
Ábhair:
Case Report
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5198009/
https://ncbi.nlm.nih.gov/pubmed/27181099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.2773
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