The genetic and molecular mechanisms of congenital hyperinsulinism

S Galcheva, H Demirbilek, S Al-Khawaga… - Frontiers in …, 2019 - frontiersin.org
Congenital hyperinsulinism (CHI) is a heterogenous and complex disorder in which the
unregulated insulin secretion from pancreatic beta-cells leads to hyperinsulinaemic …

The genetic basis of congenital hyperinsulinism

C James, RR Kapoor, D Ismail… - Journal of medical genetics, 2009 - jmg.bmj.com
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: recent updates on molecular mechanisms, diagnosis and management

D Giri, K Hawton, S Senniappan - Journal of Pediatric Endocrinology …, 2022 - degruyter.com
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 …

The molecular mechanisms, diagnosis and management of congenital hyperinsulinism

S Senniappan, VB Arya, K Hussain - Indian journal of …, 2013 - journals.lww.com
Congenital hyperinsulinism (CHI) is the result of unregulated insulin secretion from the
pancreatic β-cells leading to severe hypoglycaemia. In these patients it is important to make …

Congenital hyperinsulinism: current laboratory-based approaches to the genetic diagnosis of a heterogeneous disease

TI Hewat, MB Johnson, SE Flanagan - Frontiers in Endocrinology, 2022 - frontiersin.org
Congenital hyperinsulinism is characterised by the inappropriate release of insulin during
hypoglycaemia. This potentially life-threatening disorder can occur in isolation, or present as …

Hyperinsulinemic hypoglycemia–the molecular mechanisms

A Nessa, SA Rahman, K Hussain - Frontiers in endocrinology, 2016 - frontiersin.org
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) …

Perspective on the genetics and diagnosis of congenital hyperinsulinism disorders

CA Stanley - The Journal of Clinical Endocrinology & …, 2016 - academic.oup.com
Context: Congenital hyperinsulinism (HI) is the most common cause of hypoglycemia in
children. The risk of permanent brain injury in infants with HI continues to be as high as 25 …

[PDF][PDF] Congenital hyperinsulinism: diagnosis and treatment update

H Demirbilek, K Hussain - Journal of clinical research in …, 2017 - jag.journalagent.com
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 …

Mechanisms of disease: advances in diagnosis and treatment of hyperinsulinism in neonates

DD De León, CA Stanley - Nature clinical practice Endocrinology & …, 2007 - nature.com
Hyperinsulinism is the single most common mechanism of hypoglycemia in neonates.
Dysregulated insulin secretion is responsible for the transient and prolonged forms of …

[PDF][PDF] The diagnosis and management of hyperinsulinaemic hypoglycaemia

K Roženková, M Güemes, P Shah… - Journal of clinical …, 2015 - jag.journalagent.com
Insulin secretion from pancreatic β-cells is tightly regulated to keep fasting blood glucose
concentrations within the normal range (3.5-5.5 mmol/L). Hyperinsulinaemic hypoglycaemia …