Maintenance of glucose homeostasis via initiation of glucose production is one of the critical
physiological events that results in a smooth transition and adaptation to extrauterine life. A …

An explosion of work over the last decade has produced insight into the multiple hereditary
causes of a nonimmunological form of diabetes diagnosed most frequently within the first 6 …

Context: Hypoglycemia due to congenital hyperinsulinism (HI) is caused by mutations in 9
genes. Objective: Our objective was to correlate genotype with phenotype in 417 children …

Hyperinsulinaemic hypoglycaemia is a cause of persistent hypoglycaemia in the neonatal
and infancy periods. Prompt recognition and management of patients with …

The last decade has seen tremendous advances in understanding the molecular
mechanisms that control vertebrate organogenesis. Transgenic animal models, mainly in …

Objective In children with congenital hyperinsulinism (CHI), KATP channel genes (ABCC8
and KCNJ11) can be screened rapidly for potential pathogenic mutations. We aimed to …

Context Patients with congenital hyperinsulinism due to ABCC8 variants generally present
severe hypoglycemia and those who do not respond to medical treatment typically undergo …

Congenital hyperinsulinism (CHI) is a disease characterized by persistent insulin secretion
despite severe hypoglycemia. Mutations in the pancreatic ATP-sensitive K+ (KATP) channel …

Context: Focal forms of congenital hyperinsulinism are due to a constitutional heterozygous
mutation of paternal origin in the ABCC8 gene, more often than the KCNJ11 gene, located in …

Context Congenital hyperinsulinism (CHI) has two main histological types: diffuse and focal.
Heterozygous paternally inherited ABCC8/KCNJ11 mutations (depending upon whether …