Published in J Inherit Metab Dis on June 27, 2017
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell (2004) 7.45
Nesidioblastoma, the islet tumor of the pancreas. Am J Pathol (1938) 3.80
Clinical features of 52 neonates with hyperinsulinism. N Engl J Med (1999) 3.35
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med (1998) 3.28
Daily oral everolimus activity in patients with metastatic pancreatic neuroendocrine tumors after failure of cytotoxic chemotherapy: a phase II trial. J Clin Oncol (2009) 3.18
Everolimus treatment of refractory epilepsy in tuberous sclerosis complex. Ann Neurol (2013) 3.18
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med (2007) 3.17
Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group. Epilepsia (2008) 2.87
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet (2000) 2.87
Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal Ed (2000) 2.70
Antitumor efficacy of intermittent treatment schedules with the rapamycin derivative RAD001 correlates with prolonged inactivation of ribosomal protein S6 kinase 1 in peripheral blood mononuclear cells. Cancer Res (2004) 2.64
Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62
An activating mutation of AKT2 and human hypoglycemia. Science (2011) 2.60
Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med (1998) 2.57
Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med (1991) 2.48
Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia. N Engl J Med (2014) 2.47
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat (2009) 2.07
Anticonvulsant mechanisms of the ketogenic diet. Epilepsia (2007) 2.04
Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates. Nat Clin Pract Endocrinol Metab (2007) 2.03
Neurological aspects of hyperinsulinism-hyperammonaemia syndrome. Dev Med Child Neurol (2008) 1.91
Aerobic glycolysis in the human brain is associated with development and neotenous gene expression. Cell Metab (2014) 1.82
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest (1997) 1.64
Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet J Rare Dis (2011) 1.63
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes (2004) 1.60
Hyperinsulinism in infancy: from basic science to clinical disease. Physiol Rev (2004) 1.55
Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia. Pediatrics (2001) 1.53
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. J Clin Endocrinol Metab (2012) 1.49
Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia. J Pediatr Endocrinol Metab (2006) 1.47
Hyperinsulinaemic hypoglycaemia. Arch Dis Child (2009) 1.44
Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. J Pediatr (2001) 1.42
Beta cell nesidioblastosis in idiopathic hypoglycemia of infancy. J Pediatr (1971) 1.40
A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. Diabetes (2004) 1.40
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. Eur J Endocrinol (2010) 1.39
Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. Diabetes (2006) 1.37
Glycemic control in patients with insulinoma treated with everolimus. N Engl J Med (2009) 1.36
A signaling role of glutamine in insulin secretion. J Biol Chem (2004) 1.33
Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes (2003) 1.33
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep (2013) 1.32
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. Eur J Endocrinol (2013) 1.26
Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA. J Nucl Med (2005) 1.26
Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders. J Clin Endocrinol Metab (2016) 1.23
Congenital hyperinsulinism. Early Hum Dev (2010) 1.21
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. Am J Hum Genet (1998) 1.20
Necrotizing enterocolitis in neonates receiving octreotide for the management of congenital hyperinsulinism. Pediatr Diabetes (2009) 1.20
Metabolic rate and organ size during growth from infancy to maturity and during late gastation and early infancy. Pediatrics (1971) 1.17
Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients. Pediatr Res (2001) 1.15
Hypoglycemia in Beckwith-Wiedemann syndrome. Semin Perinatol (2000) 1.15
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels. J Clin Endocrinol Metab (2005) 1.14
Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. PLoS One (2008) 1.13
Long-term follow-up of 114 patients with congenital hyperinsulinism. Eur J Endocrinol (2003) 1.12
Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation. J Clin Endocrinol Metab (2004) 1.09
Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy. J Clin Endocrinol Metab (2011) 1.09
Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. Am J Med Genet A (2004) 1.08
Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome. J Clin Endocrinol Metab (2001) 1.06
Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria. Eur J Pediatr (1998) 1.05
Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism. Diabetes Care (2011) 1.04
Advances in the diagnosis and management of hyperinsulinemic hypoglycemia. Nat Clin Pract Endocrinol Metab (2009) 1.04
Cell populations in the endocrine pancreas of human neonates and infants. Diabetologia (1981) 1.04
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
TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly. J Med Genet (2014) 1.01
Hyperinsulinism in syndromal disorders. Acta Paediatr (2001) 1.01
Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia. Metabolism (1996) 1.01
Congenital hyperinsulinism caused by hexokinase I expression or glucokinase-activating mutation in a subset of β-cells. Diabetes (2012) 1.01
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. Am J Hum Genet (2004) 1.00
Topography of brain damage in metabolic hypoglycaemia is determined by age at which hypoglycaemia occurred. Dev Med Child Neurol (2012) 1.00
Persistent hyperinsulinaemic hypoglycaemia of infancy: long-term treatment with the somatostatin analogue Sandostatin. Clin Endocrinol (Oxf) (1989) 0.99
Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. J Clin Endocrinol Metab (2005) 0.99
Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children. J Pediatr (2015) 0.97
Biomarkers of Insulin for the Diagnosis of Hyperinsulinemic Hypoglycemia in Infants and Children. J Pediatr (2015) 0.97
The diagnosis of ectopic focal hyperinsulinism of infancy with [18F]-dopa positron emission tomography. J Clin Endocrinol Metab (2006) 0.97
Long-acting octreotide and prolonged-release lanreotide formulations have different pharmacokinetic profiles. J Clin Pharmacol (2005) 0.97
Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG. Mol Genet Metab (2014) 0.96
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
Perlman syndrome: four additional cases and review. Am J Med Genet (1999) 0.95
Hyperinsulinism and Beckwith-Wiedemann syndrome. Arch Dis Child Fetal Neonatal Ed (2001) 0.94
Is octreotide a risk factor in necrotizing enterocolitis? J Pediatr Surg (2008) 0.94
Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. Am J Med Genet (1995) 0.92
The role of mTOR in the adaptation and failure of beta-cells in type 2 diabetes. Diabetes Obes Metab (2008) 0.91
Treatment of congenital hyperinsulinism with lanreotide acetate (Somatuline Autogel). J Clin Endocrinol Metab (2011) 0.91
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options. J Inherit Metab Dis (2015) 0.90
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. Mol Genet Metab (2014) 0.90
Abnormal Neurodevelopmental Outcomes are Common in Children with Transient Congenital Hyperinsulinism. Front Endocrinol (Lausanne) (2013) 0.90
Successful treatment of congenital hyperinsulinism with long-acting release octreotide. Eur J Endocrinol (2011) 0.90
Accuracy of PET/CT Scan in the diagnosis of the focal form of congenital hyperinsulinism. J Pediatr Surg (2013) 0.90
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic). Mol Genet Metab (2011) 0.88
Long-term non-surgical therapy of severe persistent congenital hyperinsulinism with glucagon. Horm Res (2008) 0.88
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. J Med Genet (2015) 0.88
Determination of insulin for the diagnosis of hyperinsulinemic hypoglycemia. Best Pract Res Clin Endocrinol Metab (2013) 0.88
Dominant form of congenital hyperinsulinism maps to HK1 region on 10q. Horm Res Paediatr (2013) 0.87
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
Successful subcutaneous glucagon use for persistent hypoglycaemia in congenital hyperinsulinism. J Pediatr Endocrinol Metab (2013) 0.86
Effects of hypoglycemia on developmental outcome in children with congenital hyperinsulinism. J Pediatr Nurs (2005) 0.85
mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success. J Clin Endocrinol Metab (2016) 0.84
Long-term follow-up of children with congenital hyperinsulinism on octreotide therapy. J Clin Endocrinol Metab (2014) 0.84
Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant. J Hum Genet (2008) 0.84
Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism. PLoS One (2014) 0.84
In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy. Diabetes (2011) 0.83
Two patients with Kabuki syndrome presenting with endocrine problems. J Pediatr Endocrinol Metab (2001) 0.83
The heterogeneity of focal forms of congenital hyperinsulinism. J Clin Endocrinol Metab (2011) 0.83