Molecular mechanisms of neonatal hyperinsulinism

I Giurgea, C Bellanné-Chantelot, M Ribeiro… - Hormone …, 2006 - karger.com
Congenital hyperinsulinism (CHI), characterized by profound hypoglycaemia related to
inappropriate insulin secretion, may be associated histologically with either diffuse insulin …

Genetics of congenital hyperinsulinism

JC Fournet, C Junien - Endocrine pathology, 2004 - Springer
Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous entity and
causes severe hypoglycemia in neonates and infants. The clinical heterogeneity is …

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 …

Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 …

JC Fournet, C Mayaud, P de Lonlay… - The American journal of …, 2001 - Elsevier
Congenital hyperinsulinism (CHI), previously named persistent hyperinsulinemic
hypoglycemia of infancy, is characterized by profound hypoglycemia because of excessive …

Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel …

MJ Henwood, A Kelly, C MacMullen… - The Journal of …, 2005 - academic.oup.com
Congenital hyperinsulinism (HI) is most commonly caused by recessive mutations of the
pancreatic β-cell ATP-sensitive potassium channel (KATP), encoded by two genes on …

Hyperinsulinism of the newborn

B Glaser - Seminars in perinatology, 2000 - Elsevier
Neonatal hyperinsulinism (HI) is a clinical syndrome of pancreatic β-cell dysfunction
characterized by failure to suppress insulin secretion in the presence of hypoglycemia …

The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism

I Giurgea, C Sempoux… - The Journal of …, 2006 - academic.oup.com
Background: Congenital hyperinsulinism (CHI) is associated with focal hyperplasia of
endocrine tissue in 40–65% of patients. Focal CHI is sporadic and is caused by a germline …

[HTML][HTML] Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations

SE Pinney, C MacMullen, S Becker… - The Journal of …, 2008 - Am Soc Clin Investig
Congenital hyperinsulinism is a condition of dysregulated insulin secretion often caused by
inactivating mutations of the ATP-sensitive K+ (KATP) channel in the pancreatic β cell …

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 …

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 …