The genetic basis of congenital hyperinsulinism
Congenital hyperinsulinism (CHI) is biochemically characterised by the dysregulated
secretion of insulin from pancreatic β-cells. It is a major cause of persistent …
secretion of insulin from pancreatic β-cells. It is a major cause of persistent …
The genetics of neonatal hyperinsulinism
JC Fournet, C Junien - Hormone research, 2003 - karger.com
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 …
the neonate and infant. It is a clinically and genetically heterogeneous entity. The clinical …
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 …
unregulated insulin secretion from pancreatic beta-cells leads to hyperinsulinaemic …
The molecular mechanisms, diagnosis and management of congenital hyperinsulinism
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 …
pancreatic β-cells leading to severe hypoglycaemia. In these patients it is important to make …
Congenital hyperinsulinism
JB Arnoux, P de Lonlay, MJ Ribeiro, K Hussain… - Early human …, 2010 - Elsevier
Congenital hyperinsulinism (CHI or HI) is a condition leading to recurrent hypoglycemia due
to an inappropriate insulin secretion by the pancreatic islet β cells. HI has two main …
to an inappropriate insulin secretion by the pancreatic islet β cells. HI has two main …
Congenital hyperinsulinism disorders: genetic and clinical characteristics
E Rosenfeld, A Ganguly… - American Journal of …, 2019 - Wiley Online Library
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in
infants and children. Delays in diagnosis and initiation of appropriate treatment contribute to …
infants and children. Delays in diagnosis and initiation of appropriate treatment contribute to …
Congenital hyperinsulinism: molecular basis of a heterogeneous disease
T Meissner, B Beinbrech, E Mayatepek - Human mutation, 1999 - Wiley Online Library
Congenital hyperinsulinism (CHI) is a disease phenotype characterized by increased,
usually irregular, insulin secretion leading to hypoglycemia, coma, and severe brain …
usually irregular, insulin secretion leading to hypoglycemia, coma, and severe brain …
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism
KE Snider, S Becker, L Boyajian… - The Journal of …, 2013 - academic.oup.com
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 …
genes. Objective: Our objective was to correlate genotype with phenotype in 417 children …
Hyperinsulinism of Infancy: Novel ABCC8 and KCNJ11 Mutations and Evidence for Additional Locus Heterogeneity
S Tornovsky, A Crane, KE Cosgrove… - The Journal of …, 2004 - academic.oup.com
Hyperinsulinism of infancy is a genetically heterogeneous disease characterized by
dysregulation of insulin secretion resulting in severe hypoglycemia. To date, mutations in …
dysregulation of insulin secretion resulting in severe hypoglycemia. To date, mutations in …
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 …
children. The risk of permanent brain injury in infants with HI continues to be as high as 25 …