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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:J Clin Res Pediatr Endocrinol
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Galenos Publishing 2016
Θέματα:
Case Report
Διαθέσιμο Online: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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