Hyperinsulinism of infancy is a genetically heterogeneous disease characterized by
dysregulation of insulin secretion resulting in severe hypoglycemia. To date, mutations in …

Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous entity and
causes severe hypoglycemia in neonates and infants. The clinical heterogeneity is …

We conducted a cohort study to elucidate the molecular spectrum of congenital
hyperinsulinism (CHI) in Chinese pediatric patients. Thirty Chinese children with CHI were …

Hyperinsulinism of Infancy (HI) is a clinical disorder characterized by deregulation of insulin
secretion that leads to profound hypoglycemia. Mutations in genes encoding the ATP …

Congenital hyperinsulinism (CHI) is the most important cause of persistent hypoglycaemia in
the neonate and infant. It is a clinically and genetically heterogeneous entity. The clinical …

Hyperinsulinism in infancy (HI) is a condition of neonates and early childhood. For many
years the pathophysiology of this potentially lethal disorder was unknown. Advances in the …

Inactivating mutations in the genes encoding the two subunits of the pancreatic beta‐cell
KATP channel, ABCC8 and KCNJ11, are the most common finding in children with …

Background Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition.
Mutations in eight genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and …

Congenital hyperinsulinism (CHI) is biochemically characterised by the dysregulated
secretion of insulin from pancreatic β-cells. It is a major cause of persistent …

Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in
infants and children. Recessive inactivating mutations in the ABCC8 and KCNJ11 genes …