Bridging the gaps: recent advances in diagnosis, care, and outcomes in congenital hyperinsulinism.

Abstract excerpt

PURPOSE OF REVIEW: To highlight advances in congenital hyperinsulinism (HI), including newly described molecular mechanisms of disease, novel therapeutic interventions, and improved understanding of long-term outcomes. RECENT FINDINGS: Important advances have been made elucidating the molecular mechanisms responsible for HI. Non-coding variants in HK1 have been found to cause aberrant hexokinase expression....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to Congenital Hyperinsulinism
• Share to Genetic Testing