Published in Clin Chem on December 21, 2007
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A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels. Int J Pediatr Endocrinol (2015) 0.75
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Septooptic Dysplasia with an Associated Arachnoid Cyst. Case Rep Pediatr (2016) 0.75
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Adding Glucagon-Stimulated GH Testing to the Diagnostic Fast Increases the Detection of GH-Sufficient Children. Horm Res Paediatr (2016) 0.75
Development of Pulmonary Hypertension During Treatment with Diazoxide: A Case Series and Literature Review. Pediatr Cardiol (2017) 0.75
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature (2007) 6.10
The cardiac phenotype induced by PPARalpha overexpression mimics that caused by diabetes mellitus. J Clin Invest (2002) 4.22
Multiple organ pathology, metabolic abnormalities and impaired homeostasis of reactive oxygen species in Epas1-/- mice. Nat Genet (2003) 3.78
A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study. Diabetes (2008) 2.90
Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62
The mitochondrial inner membrane protein mitofilin controls cristae morphology. Mol Biol Cell (2005) 2.53
Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates. Nat Clin Pract Endocrinol Metab (2007) 2.03
HIF-2alpha regulates murine hematopoietic development in an erythropoietin-dependent manner. Blood (2004) 1.99
Fatty acid oxidation disorders. Annu Rev Physiol (2002) 1.96
Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan. J Pediatr (2007) 1.92
Hepatic Hdac3 promotes gluconeogenesis by repressing lipid synthesis and sequestration. Nat Med (2012) 1.87
Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. Hum Mol Genet (2010) 1.81
Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry. J Pediatr (2010) 1.75
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. J Biol Chem (2010) 1.68
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J Clin Invest (2008) 1.66
Green tea polyphenols modulate insulin secretion by inhibiting glutamate dehydrogenase. J Biol Chem (2006) 1.64
Sphingolipid-based drugs selectively kill cancer cells by down-regulating nutrient transporter proteins. Biochem J (2011) 1.59
Protein-sensitive hypoglycemia without leucine sensitivity in hyperinsulinism caused by K(ATP) channel mutations. J Pediatr (2006) 1.57
Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes. Diabetes (2008) 1.56
Regulation of leucine-stimulated insulin secretion and glutamine metabolism in isolated rat islets. J Biol Chem (2002) 1.53
Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue. Diabetes (2007) 1.45
Assessment of a method to expel intraperitoneal gas after gynecologic laparoscopy. J Minim Invasive Gynecol (2005) 1.41
A signaling role of glutamine in insulin secretion. J Biol Chem (2004) 1.33
Clinical features and insulin regulation in infants with a syndrome of prolonged neonatal hyperinsulinism. J Pediatr (2006) 1.29
The structure of apo human glutamate dehydrogenase details subunit communication and allostery. J Mol Biol (2002) 1.27
Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism. J Clin Endocrinol Metab (2007) 1.25
Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations. Diabetes (2009) 1.23
Necrotizing enterocolitis in neonates receiving octreotide for the management of congenital hyperinsulinism. Pediatr Diabetes (2009) 1.20
A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels. J Biol Chem (2005) 1.16
Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. J Clin Endocrinol Metab (2004) 1.16
Effects of a GTP-insensitive mutation of glutamate dehydrogenase on insulin secretion in transgenic mice. J Biol Chem (2006) 1.15
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. Lab Invest (2003) 1.13
Untangling the glutamate dehydrogenase allosteric nightmare. Trends Biochem Sci (2008) 1.13
Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young. J Biol Chem (2005) 1.11
Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseases. Am J Physiol Endocrinol Metab (2003) 1.11
Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1. Diabetes (2011) 1.10
Elimination of KATP channels in mouse islets results in elevated [U-13C]glucose metabolism, glutaminolysis, and pyruvate cycling but a decreased gamma-aminobutyric acid shunt. J Biol Chem (2008) 1.10
Structural studies on ADP activation of mammalian glutamate dehydrogenase and the evolution of regulation. Biochemistry (2003) 1.10
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor. Diabetes (2003) 1.09
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM). Diabetes (2007) 1.09
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. J Clin Endocrinol Metab (2012) 1.09
Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis. Pediatrics (2003) 1.09
Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations. Biochem J (2002) 1.08
CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase. Ann Neurol (2006) 1.08
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. Hum Mutat (2003) 1.07
The hyperinsulinism/hyperammonemia syndrome. Rev Endocr Metab Disord (2010) 1.06
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. J Clin Endocrinol Metab (2004) 1.05
Advances in diagnosis and treatment of hyperinsulinism in infants and children. J Clin Endocrinol Metab (2002) 1.04
Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency. Biochem Biophys Res Commun (2007) 1.04
Glucokinase activation repairs defective bioenergetics of islets of Langerhans isolated from type 2 diabetics. Am J Physiol Endocrinol Metab (2011) 1.03
Exendin-(9-39) corrects fasting hypoglycemia in SUR-1-/- mice by lowering cAMP in pancreatic beta-cells and inhibiting insulin secretion. J Biol Chem (2008) 1.03
Short-chain acyl-coenzyme A dehydrogenase deficiency. Mol Genet Metab (2008) 1.03
The structure and allosteric regulation of mammalian glutamate dehydrogenase. Arch Biochem Biophys (2011) 1.03
Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism. J Biol Chem (2008) 1.03
Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure. J Biol Chem (2009) 1.01
PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation. J Inherit Metab Dis (2011) 1.01
Regulation of glucagon secretion in normal and diabetic human islets by γ-hydroxybutyrate and glycine. J Biol Chem (2012) 1.00
Evolution of glutamate dehydrogenase regulation of insulin homeostasis is an example of molecular exaptation. Biochemistry (2004) 0.99
Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations. J Pediatr (2005) 0.99
Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. Mod Pathol (2006) 0.98
Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2(-/-)) mice. Mol Genet Metab (2007) 0.98
Green tea polyphenols control dysregulated glutamate dehydrogenase in transgenic mice by hijacking the ADP activation site. J Biol Chem (2011) 0.98
The diagnosis of ectopic focal hyperinsulinism of infancy with [18F]-dopa positron emission tomography. J Clin Endocrinol Metab (2006) 0.97
GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive K+ channel. Diabetes (2012) 0.96
The surgical management of insulinomas in children. J Pediatr Surg (2013) 0.94
Measurement of tissue acyl-CoAs using flow-injection tandem mass spectrometry: acyl-CoA profiles in short-chain fatty acid oxidation defects. Mol Genet Metab (2012) 0.93
The function of CLN3P, the Batten disease protein. Mol Genet Metab (2008) 0.93
CLN3P, the Batten disease protein, localizes to membrane lipid rafts (detergent-resistant membranes). Biochem Biophys Res Commun (2004) 0.92
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. Mol Genet Metab (2008) 0.92
Accuracy of PET/CT Scan in the diagnosis of the focal form of congenital hyperinsulinism. J Pediatr Surg (2013) 0.90
Multiple ectopic lesions of focal islet adenomatosis identified by positron emission tomography scan in an infant with congenital hyperinsulinism. J Pediatr Surg (2007) 0.89
Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD). PLoS One (2009) 0.88
Pancreatic head resection and Roux-en-Y pancreaticojejunostomy for the treatment of the focal form of congenital hyperinsulinism. J Pediatr Surg (2012) 0.88
Determination of insulin for the diagnosis of hyperinsulinemic hypoglycemia. Best Pract Res Clin Endocrinol Metab (2013) 0.88
Hepatocyte nuclear factor 4α gene mutation associated with familial neonatal hyperinsulinism and maturity-onset diabetes of the young. J Pediatr (2011) 0.87
Over-expression of CLN3P, the Batten disease protein, inhibits PANDER-induced apoptosis in neuroblastoma cells: further evidence that CLN3P has anti-apoptotic properties. Mol Genet Metab (2006) 0.87
Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations. Pediatr Dev Pathol (2003) 0.87
Birefringence and DNA condensation of liquid crystalline chromosomes. Eukaryot Cell (2010) 0.87
Dominant form of congenital hyperinsulinism maps to HK1 region on 10q. Horm Res Paediatr (2013) 0.87
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. J Inherit Metab Dis (2011) 0.87
Pancreatic surgery in infants with Beckwith-Wiedemann syndrome and hyperinsulinism. J Pediatr Surg (2013) 0.87
A multidisciplinary approach to the focal form of congenital hyperinsulinism leads to successful treatment by partial pancreatectomy. J Pediatr Surg (2004) 0.86
A specialized team approach to diagnosis and medical versus surgical treatment of infants with congenital hyperinsulinism. Semin Pediatr Surg (2011) 0.86
Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: a case report. Fetal Diagn Ther (2006) 0.86
Rare forms of congenital hyperinsulinism. Semin Pediatr Surg (2011) 0.86
The value of radiologic interventions and (18)F-DOPA PET in diagnosing and localizing focal congenital hyperinsulinism: systematic review and meta-analysis. Mol Imaging Biol (2013) 0.86
Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations. Am J Obstet Gynecol (2002) 0.86
The structure and allosteric regulation of glutamate dehydrogenase. Neurochem Int (2010) 0.85
Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency. PLoS Genet (2013) 0.85
Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. Am J Hum Genet (2008) 0.85
Glutaminolysis and insulin secretion: from bedside to bench and back. Diabetes (2002) 0.85
Emergency peripartum hysterectomy: a 10-year review at the Royal Hospital for Women, Sydney. Aust N Z J Obstet Gynaecol (2011) 0.85
Hypertrophic cardiomyopathy in neonates with congenital hyperinsulinism. Arch Dis Child Fetal Neonatal Ed (2013) 0.85
Effects of hypoglycemia on developmental outcome in children with congenital hyperinsulinism. J Pediatr Nurs (2005) 0.85