Condition: Congenital Hyperinsulinism


rs1057516317 in ABCC8 gene and Congenital Hyperinsulinism PMID 17378627 2007 Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.

PMID 20685672 2010 ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.

PMID 23275527 2013 Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

PMID 27188453 2016 Clinical and genetic characterization of congenital hyperinsulinism in Spain.

PMID 16429405 2006 Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

PMID 14715863 2004 Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation.

PMID 16969006 2006 Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: a case report.

PMID 23345197 2013 Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

PMID 24145932 2013 Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia.

PMID 26180531 2015 A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels.

PMID 8923011 1996 Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

PMID 21716120 2011 ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia.

PMID 15579781 2004 Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

PMID 7716548 1995 Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.

PMID 27573238 2016 Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations.

PMID 16357843 2006 Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.

PMID 23067144 2013 Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP-channel hyperinsulinism.

PMID 18988933 2008 Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations.

PMID 17466004 2007 Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies.

PMID 24616771 2013 Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism.

PMID 15562009 2005 Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

PMID 20427569 2010 Role of Hsp90 in biogenesis of the beta-cell ATP-sensitive potassium channel complex.

PMID 9618169 1998 Genetic heterogeneity in familial hyperinsulinism.

PMID 16186397 2005 Serum glucagon counterregulatory hormonal response to hypoglycemia is blunted in congenital hyperinsulinism.

PMID 14764815 2004 Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism.