Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism

Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism

INTRODUCTION: Congenital hyperinsulinism (CHI) is the most frequent cause of severe and persistent hypoglycaemia from birth. Understanding the pathophysiology and genetic defects behind hyperinsulinism and its complications provides clues to timely diagnosis and management. The aim of this study was...

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Bibliographic Details
Main Authors: Maryam Razzaghy-Azar, Saeedeh Saeedi, Sepideh Borhan Dayani, Samaneh Enayati, Farzaneh Abbasi, Somayyeh Hashemian, Peyman Eshraghi, Siroos Karimdadi, Parisa Tajdini, Rahim Vakili, Mahsa M. Amoli, Hanieh Yaghootkar
Format: Article
Language:English
Published: Galenos Yayincilik 2022-03-01
Series:JCRPE
Subjects:
congenital hyperinsulinism
genetic mutations
diazoxide
targeted next generation sequencing
Online Access:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-02486

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https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-02486

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