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

• Main Authors: Maryam Razzaghy-Azar (Author), Saeedeh Saeedi (Author), Sepideh Borhan Dayani (Author), Samaneh Enayati (Author), Farzaneh Abbasi (Author), Somayyeh Hashemian (Author), Peyman Eshraghi (Author), Siroos Karimdadi (Author), Parisa Tajdini (Author), Rahim Vakili (Author), Mahsa M. Amoli (Author), Hanieh Yaghootkar (Author)
• Format: Book
• Published: Galenos Yayincilik, 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...