Results 141 to 150 of about 245,105 (180)
Mild Congenital Hyperinsulinism Caused by Mutation in Human Glucokinase Gene. [PDF]
Sozaeva LS +5 more
europepmc +1 more source
Diazoxide toxicity in congenital hyperinsulinism: A case report.
Pajno R +7 more
europepmc +1 more source
Low-Level Mosaic GCK Mutations in Children With Diazoxide-Unresponsive Congenital Hyperinsulinism.
Boodhansingh KE +6 more
europepmc +1 more source
Congenital hyperinsulinism (CHI or HI) is a condition leading to recurrent hypoglycemia due to an inappropriate insulin secretion by the pancreatic islet beta cells. HI has two main characteristics: a high glucose requirement to correct hypoglycemia and a responsiveness of hypoglycemia to exogenous glucagon.
Klaus Mohnike +2 more
exaly +5 more sources
Glucose Metabolism in 105 Children and Adolescents After Pancreatectomy for Congenital Hyperinsulinism [PDF]
OBJECTIVE - To describe the long-term metabolic outcome of children with congenital hyperinsulinism after near-total or partial elective pancreatectomy.
Gilberto Velho +2 more
exaly +2 more sources
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Current Opinion in Pediatrics, 2013
Congenital hyperinsulinism (CHI) is a multifaceted disease and continues to be the most common cause of persistent hypoglycemia in infants. The purpose of the review is to highlight important recent developments regarding CHI.Several recent studies have highlighted the advances in medical genetics, imaging techniques, histological variety, and surgical
Vittoria Rufini, Milena Pizzoferro
openaire +3 more sources
Congenital hyperinsulinism (CHI) is a multifaceted disease and continues to be the most common cause of persistent hypoglycemia in infants. The purpose of the review is to highlight important recent developments regarding CHI.Several recent studies have highlighted the advances in medical genetics, imaging techniques, histological variety, and surgical
Vittoria Rufini, Milena Pizzoferro
openaire +3 more sources
A Newborn with Congenital Hyperinsulinism
Fetal and Pediatric Pathology, 2019Objective: Our aim was to describe the molecular alterations in the ABCC8 gene in a child with congenital hyperinsulinism (CHI). Methods: Genetic analysis of the ABCC8 gene of a newborn infant with congenial hyperinsulinism was obtained. Results: There were two mutations in the ABCC8 gene, c.4412delT, and c.3979G > A, indicating a compound heterozygous
Yiting, Du +3 more
openaire +2 more sources
Genetics of Congenital Hyperinsulinism
Endocrine Pathology, 2004Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous entity and causes severe hypoglycemia in neonates and infants. The clinical heterogeneity is manifested by severity ranging from extremely severe, life-threatening disease to very mild clinical symptoms, which may even be difficult to identify.
Jean-Christophe, Fournet +1 more
openaire +2 more sources

