Published in J Clin Endocrinol Metab on August 01, 2001
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
Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations. Diabetes (2009) 1.23
Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders. J Clin Endocrinol Metab (2016) 1.23
Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations. Biochem J (2002) 1.08
Regulation of glutamate metabolism and insulin secretion by glutamate dehydrogenase in hypoglycemic children. Am J Clin Nutr (2009) 1.03
Leucine metabolism in regulation of insulin secretion from pancreatic beta cells. Nutr Rev (2010) 1.03
Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase. Orphanet J Rare Dis (2012) 0.94
Mitochondrial GTP insensitivity contributes to hypoglycemia in hyperinsulinemia hyperammonemia by inhibiting glucagon release. Diabetes (2014) 0.93
Structural basis for leucine-induced allosteric activation of glutamate dehydrogenase. J Biol Chem (2011) 0.85
Mechanisms of amino acid-stimulated insulin secretion in congenital hyperinsulinism. Acta Biochim Biophys Sin (Shanghai) (2012) 0.80
Two genetic forms of hyperinsulinemic hypoglycemia caused by dysregulation of glutamate dehydrogenase. Neurochem Int (2010) 0.79
Mitochondrial regulation of β-cell function: maintaining the momentum for insulin release. Mol Aspects Med (2015) 0.77
Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties. J Inherit Metab Dis (2017) 0.75
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med (1998) 3.28
Familial hypoglycemia precipitated by amino acids. J Clin Invest (1956) 3.10
A syndrome of congenital hyperinsulinism and hyperammonemia. J Pediatr (1997) 2.15
L-leucine and a nonmetabolized analogue activate pancreatic islet glutamate dehydrogenase. Nature (1980) 1.81
Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. J Pediatr (2001) 1.42
Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase. J Clin Endocrinol Metab (2001) 1.42
Regulation of insulin release by factors that also modify glutamate dehydrogenase. J Biol Chem (1988) 1.29
Stimulation of pancreatic islet metabolism and insulin release by a nonmetabolizable amino acid. Proc Natl Acad Sci U S A (1981) 1.16
Leucine-induced hypoglycemia. I. Clinical observations and diagnostic considerations. J Pediatr (1960) 1.15
Glucose regulation of glutaminolysis and its role in insulin secretion. Diabetes (1999) 1.08
Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia. Metabolism (1996) 1.01
Serum-insulin changes following administration of L-leucine to children. Arch Dis Child (1968) 0.98
Comparison of the effects of leucines, non-metabolizable leucine analogues and other insulin secretagogues on the activity of glutamate dehydrogenase. Acta Diabetol Lat (1976) 0.96
Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism. J Pediatr (2000) 0.95
A difference in mechanism by which leucine and other amino acids induce insulin release. J Clin Endocrinol Metab (1967) 0.92
Regulation of glutamate dehydrogenase by palmitoyl-coenzyme A. Arch Biochem Biophys (1981) 0.91
Glutamine metabolism in rat hepatocytes. Stimulation by a nonmetabolizable analog of leucine. J Biol Chem (1986) 0.86
Regulation of the glutamate dehydrogenase activity in rat islets of Langerhans and its consequence on insulin release. Metabolism (1994) 0.85
beta-2-Aminobicyclo-(2.2.1)-heptane-2-carboxylic acid. A new activator of glutaminase in intact rat liver mitochondria. J Biol Chem (1986) 0.82
Insulin secretory dynamics after two consecutive intravenous stimulations with glucose and/or tolbutamide. Metabolism (1979) 0.79
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell (1997) 3.42
The prevalence of Helicobacter pylori infection in different countries. Aliment Pharmacol Ther (1995) 2.84
Beta-cell proliferation and apoptosis in the developing normal human pancreas and in hyperinsulinism of infancy. Diabetes (2000) 2.75
Initial evaluation of human recombinant interleukin-1 receptor antagonist in the treatment of sepsis syndrome: a randomized, open-label, placebo-controlled multicenter trial. Crit Care Med (1994) 2.66
Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med (1998) 2.57
Oral pilocarpine for post-irradiation xerostomia in patients with head and neck cancer. N Engl J Med (1993) 2.41
Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. J Pediatr (1998) 2.33
Enhancement of allergic inflammation by the interaction between diesel exhaust particles and the immune system. J Allergy Clin Immunol (1998) 2.19
A syndrome of congenital hyperinsulinism and hyperammonemia. J Pediatr (1997) 2.15
Malignant melanoma re-excision specimens: is there a need for histopathological analysis? J Plast Reconstr Aesthet Surg (2008) 2.04
Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels. Pediatr Res (1983) 1.91
A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes (1997) 1.86
Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum Mol Genet (1996) 1.76
Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes. Pediatr Res (1985) 1.75
Somatic growth failure after the Fontan operation. Cardiol Young (2000) 1.73
The causes of neonatal hypoglycemia. N Engl J Med (1999) 1.68
Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Am J Gastroenterol (1996) 1.66
Short- and long-term use of octreotide in the treatment of congenital hyperinsulinism. J Pediatr (1993) 1.65
An archaebacterial ATPase, homologous to ATPases in the eukaryotic 26 S proteasome, activates protein breakdown by 20 S proteasomes. J Biol Chem (1999) 1.63
Insulin-like growth factor binding protein-1 levels in the diagnosis of hypoglycemia caused by hyperinsulinism. J Pediatr (1997) 1.58
Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia. Pediatr Res (1985) 1.56
Linkage-disequilibrium mapping without genotyping. Nat Genet (1998) 1.52
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. J Clin Endocrinol Metab (2012) 1.49
Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine. N Engl J Med (1988) 1.49
Dual regulation of insulin-like growth factor binding protein-1 levels by insulin and cortisol during fasting. J Clin Endocrinol Metab (1998) 1.48
Decreased oxygenation and hyperlipemia during intravenous fat infusions in premature infants. Pediatrics (1980) 1.45
Sudden neonatal death in carnitine transporter deficiency. J Pediatr (1997) 1.43
Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. J Pediatr (2001) 1.42
Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase. J Clin Endocrinol Metab (2001) 1.42
p57(KIP2) expression in normal islet cells and in hyperinsulinism of infancy. Diabetes (2001) 1.42
Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Hepatology (1994) 1.41
Massive hepatomegaly, steatosis, and secondary plasma carnitine deficiency in an infant with cystic fibrosis. Pediatrics (1989) 1.39
Calcium- and vitamin D-regulated keratinocyte differentiation. Mol Cell Endocrinol (2001) 1.38
Hyperinsulinism in infancy: diagnosis by demonstration of abnormal response to fasting hypoglycemia. Pediatrics (1976) 1.35
Glycemic response to glucagon during fasting hypoglycemia: an aid in the diagnosis of hyperinsulinism. J Pediatr (1980) 1.34
Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. J Pediatr (1997) 1.32
FlaC, a protein of Campylobacter jejuni TGH9011 (ATCC43431) secreted through the flagellar apparatus, binds epithelial cells and influences cell invasion. Mol Microbiol (2004) 1.31
Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder. J Pediatr (1991) 1.30
Structures of bovine glutamate dehydrogenase complexes elucidate the mechanism of purine regulation. J Mol Biol (2001) 1.29
Fine mapping of the three rRNA operons on the updated genomic map of Campylobacter jejuni TGH9011 (ATCC 43431). J Bacteriol (1993) 1.26
Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. N Engl J Med (1988) 1.19
The IGF axis in baboon pregnancy: placental and systemic responses to feeding 70% global ad libitum diet. Placenta (2007) 1.19
Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. Nat Genet (1994) 1.18
Relationship between unusual hepatic acyl coenzyme A profiles and the pathogenesis of Reye syndrome. J Clin Invest (1988) 1.16
Disorders of glutamate metabolism. Ment Retard Dev Disabil Res Rev (2001) 1.15
Determination of the equilibrium constants of associating protein systems. 3. Evaluation of the weight fraction of monomer from the weight-average partition coefficient (application to bovine liver glutamate dehydrogenase). Biochemistry (1969) 1.15
Hyperinsulinism in infants and children: diagnosis and therapy. Adv Pediatr (1976) 1.14
Congenital hyperinsulinism and the surgeon: lessons learned over 35 years. J Pediatr Surg (1999) 1.13
Genetic heterogeneity in familial hyperinsulinism. Hum Mol Genet (1998) 1.12
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome. Hepatology (1987) 1.11
Anti-leukotriene agents compared to inhaled corticosteroids in the management of recurrent and/or chronic asthma in adults and children. Cochrane Database Syst Rev (2004) 1.11
Effect of tri-iodothyronine replacement on the metabolic and pituitary responses to starvation. N Engl J Med (1979) 1.08
Hyperinsulinism: molecular aetiology of focal disease. Arch Dis Child (1998) 1.08
Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations. Diabetes (2001) 1.07
Chromosome 13 dementias. Cell Mol Life Sci (2005) 1.07
Ethnocultural and sex characteristics of patients attending a tertiary care pain clinic in Toronto, Ontario. Pain Res Manag (2007) 1.04
Characterization of somatogenic and lactogenic binding sites in isolated rat hepatocytes. Endocrinology (1976) 1.03
Pain characteristics and demographics of patients attending a university-affiliated pain clinic in Toronto, Ontario. Pain Res Manag (2007) 1.03
Acarbose treatment of postprandial hypoglycemia in children after Nissen fundoplication. J Pediatr (2001) 1.02
Binge eating, mood, and quality of life in youth with type 2 diabetes: baseline data from the today study. Diabetes Care (2011) 1.01
Identification of Campylobacter jejuni, C. coli, C. lari, C. upsaliensis, arcobacter butzleri, and A. butzleri-like species based on the glyA gene. J Clin Microbiol (2000) 1.01
Cellular actions of insulin-like growth factor binding proteins. Horm Metab Res (1999) 1.00
Metabolic fuel and hormone responses to fasting in newborn infants. Pediatrics (1979) 0.97
Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene. Diabetes (1999) 0.96
Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism. J Pediatr (2000) 0.95
Dietary-dependent carnitine deficiency as a cause of nonketotic hypoglycemia in an infant. J Pediatr (1981) 0.92
In vivo nasal challenge with diesel exhaust particles enhances expression of the CC chemokines rantes, MIP-1alpha, and MCP-3 in humans. Clin Immunol (2000) 0.91
Tetanus antibody protection among HIV-infected US-born patients and immigrants. Int J Emerg Med (2008) 0.91
Calcium and cholecalciferol supplementation provides no added benefit to nutritional counseling to improve bone mineral density in survivors of childhood acute lymphoblastic leukemia (ALL). Pediatr Blood Cancer (2014) 0.90
Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews. Hum Mol Genet (1995) 0.90
Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism. Hum Mutat (1999) 0.89
A prototype 64-electrode stimulator in 65 nm CMOS process towards a high density epi-retinal prosthesis. Conf Proc IEEE Eng Med Biol Soc (2011) 0.89
Long-term non-surgical therapy of severe persistent congenital hyperinsulinism with glucagon. Horm Res (2008) 0.88
Hyperfiltration and renal disease in glycogen storage disease, type I. Kidney Int (1989) 0.88
Analysis of an Escherichia coli dnaB temperature-sensitive insertion mutation and its cold-sensitive extragenic suppressor. J Biol Chem (1991) 0.88
Impaired metabolic function and signaling defects in phagocytic cells in glycogen storage disease type 1b. J Clin Invest (1990) 0.86
Clinical and molecular heterogeneity of familial hyperinsulinism. J Pediatr (1998) 0.86
Wolfram syndrome not HLA linked. N Engl J Med (1979) 0.85
Sex differences in binding of human growth hormone to isolated rat hepatocytes. Proc Natl Acad Sci U S A (1976) 0.84
Pancreatic adenomas in infants and children: current surgical management. J Pediatr Surg (1978) 0.84
The long-chain acyl-CoA dehydrogenase deficiency. Prog Clin Biol Res (1990) 0.84