Case Report: Functional characterization of a missense variant in INSR associated with hypoketotic hypoglycemia

• Main Authors: Herodes Guzman (Author), Lauren M. Mitteer (Author), Pan Chen (Author), Christine A. Juliana (Author), Kara Boodhansingh (Author), Katherine Lord (Author), Arupa Ganguly (Author), Diva D. De Leon (Author)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2024-10-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Hypoketotic hypoglycemia due to dysregulated insulin secretion is the most common cause of persistent hypoglycemia in children. However, this type of hypoglycemia can also result from defects in the insulin signaling pathway. Distinguishing between the two is important for informing treatment decisi...