The growing number of multi-omics studies demands clear conceptual workflows coupled
with easy-to-use software tools to facilitate data analysis and interpretation. This protocol …

Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are
maintained within a narrow physiological range (3.5-5.5 mmol/L). Hyperinsulinaemic …

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 …

Hyperinsulinemic hypoglycemia (HH) is characterized by unregulated insulin release,
leading to persistently low blood glucose concentrations with lack of alternative fuels, which …

Hyperinsulinaemic hypoglycaemia (HH) is due to the unregulated secretion of insulin from
pancreatic β-cells. A rapid diagnosis and appropriate management of these patients is …

Congenital hyperinsulinism (CHI) is a rare disease characterized by an unregulated insulin
release, leading to hypoglycaemia. It is the most frequent cause of persistent and severe …

Under normal physiological conditions, pancreatic β-cells secrete insulin to maintain fasting
blood glucose levels in the range 3.5–5.5 mmol/L. In hyperinsulinemic hypoglycemia (HH) …

Hyperinsulinaemic hypoglycaemia (HH) is characterized by unregulated insulin secretion
from pancreatic β-cells. Untreated hypoglycaemia in infants can lead to seizures …

Next-generation sequencing (NGS) enables analysis of the human genome on a scale
previously unachievable by Sanger sequencing. Exome sequencing of the coding regions …

Diabetes can be managed by careful monitoring of blood glucose and timely delivery of
exogenous insulin. However, even with fastidious compliance, people with diabetes can …