Published in Arch Dis Child Fetal Neonatal Ed on March 01, 2000
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest (2001) 2.01
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest (2000) 1.97
Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management. J Clin Res Pediatr Endocrinol (2012) 1.28
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. Eur J Endocrinol (2013) 1.26
Nesidioblastosis: an old term and a new understanding. World J Surg (2004) 1.21
Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management. J Inherit Metab Dis (2012) 1.14
The molecular mechanisms, diagnosis and management of congenital hyperinsulinism. Indian J Endocrinol Metab (2013) 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
Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during management. Arch Dis Child (2007) 0.95
Severe transient hyperinsulinaemic hypoglycaemia: two neonates without predisposing factors and a review of the literature. Eur J Pediatr (2003) 0.94
Hyperinsulinism and Beckwith-Wiedemann syndrome. Arch Dis Child Fetal Neonatal Ed (2001) 0.94
Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms. Front Endocrinol (Lausanne) (2016) 0.91
Pharmacological stimulation and inhibition of insulin secretion in mouse islets lacking ATP-sensitive K+ channels. Br J Pharmacol (2010) 0.90
Glucagon treatment for post-gastric bypass hypoglycemia. Obesity (Silver Spring) (2010) 0.90
Persistent hyperinsulinemic hypoglycemia of infancy: An overview of current concepts. J Indian Assoc Pediatr Surg (2012) 0.89
Congenital hyperinsulinism and mosaic abnormalities of the ploidy. J Med Genet (2005) 0.87
Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism. PLoS One (2014) 0.84
The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia. J Clin Res Pediatr Endocrinol (2015) 0.83
Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation. BMJ Case Rep (2013) 0.81
Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy. Int J Pediatr Endocrinol (2014) 0.80
Rapid intraoperative insulin assay: a novel method to differentiate insulinoma from nesidioblastosis in the pediatric patient. Ann Surg Innov Res (2007) 0.79
Molecular mechanisms of protein induced hyperinsulinaemic hypoglycaemia. World J Diabetes (2014) 0.78
Single incision laparoscopic 90 % pancreatectomy for the treatment of persistent hyperinsulinemic hypoglycemia of infancy. Pediatr Surg Int (2016) 0.78
Hyperinsulinaemic hypoglycaemia in preterm neonates. Arch Dis Child Fetal Neonatal Ed (2004) 0.77
Roles of Commensal Microbiota in Pancreas Homeostasis and Pancreatic Pathologies. J Diabetes Res (2015) 0.77
Relative expression of a dominant mutated ABCC8 allele determines the clinical manifestation of congenital hyperinsulinism. Diabetes (2011) 0.77
Biochemical studies in patients with hyperinsulinaemic hypoglycaemia. Eur J Pediatr (2013) 0.76
Ketotic hypoglycaemia in children with diazoxide responsive hyperinsulinism of infancy. Eur J Pediatr (2005) 0.76
Drug-induced hepatitis following use of octreotide for long-term treatment of congenital hyperinsulinism. BMJ Case Rep (2012) 0.76
Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia. Int J Pediatr Endocrinol (2014) 0.75
Delayed presentation of prolonged hyperinsulinaemic hypoglycaemia in a preterm small-for-gestational age neonate. BMJ Case Rep (2013) 0.75
Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal Ed (2001) 0.75
Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia. BMC Res Notes (2015) 0.75
Surgical management of congenital hyperinsulinism in a resource-limited setting. J Neonatal Surg (2013) 0.75
Treatment strategies for acute metabolic disorders in neonates. Sudan J Paediatr (2011) 0.75
Neonate with hypoglycemia for pancreatectomy: Anesthetic challenge. Anesth Essays Res (2016) 0.75
Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy. Horm Res Paediatr (2016) 0.75
An Evaluation of Growth Hormone and IGF-1 Responses in Neonates with Hyperinsulinaemic Hypoglycaemia. Int J Endocrinol (2013) 0.75
Subtotal Pancreatectomy for Congenital Hyperinsulinism: Our Experience and Review of Literature. Indian J Surg (2013) 0.75
A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels. Int J Pediatr Endocrinol (2015) 0.75
Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties. J Inherit Metab Dis (2017) 0.75
Molecular biology of adenosine triphosphate-sensitive potassium channels. Endocr Rev (1999) 3.51
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
Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med (1998) 2.57
Loss of functional KATP channels in pancreatic beta-cells causes persistent hyperinsulinemic hypoglycemia of infancy. Nat Med (1996) 2.40
Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. J Pediatr (1998) 2.33
Neural dysfunction during hypoglycaemia. Arch Dis Child (1988) 2.19
Persistent hyperinsulinemic hypoglycemia of infancy: long-term octreotide treatment without pancreatectomy. J Pediatr (1993) 1.94
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
Insulin-like growth factor binding protein-1 levels in the diagnosis of hypoglycemia caused by hyperinsulinism. J Pediatr (1997) 1.58
Hyperinsulinism in asphyxiated and small-for-dates infants with hypoglycaemia. Lancet (1984) 1.55
Hypoglycemia in infancy: the need for a rational definition. A Ciba Foundation discussion meeting. Pediatrics (1990) 1.52
Genetics of neonatal hyperinsulinism. Arch Dis Child Fetal Neonatal Ed (2000) 1.47
Neonatal hypoglycaemia--the controversy regarding definition. Arch Dis Child (1988) 1.44
Potassium selective ion channels in insulin-secreting cells: physiology, pharmacology and their role in stimulus-secretion coupling. Biochim Biophys Acta (1991) 1.39
The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: deficiency of pancreatic D cells or hyperactivity of B cells? Diabetologia (1984) 1.35
Glycemic response to glucagon during fasting hypoglycemia: an aid in the diagnosis of hyperinsulinism. J Pediatr (1980) 1.34
Hyperinsulinemic hypoglycemia of infancy (nesidioblastosis) in clinical remission: high incidence of diabetes mellitus and persistent beta-cell dysfunction at long-term follow-up. J Clin Endocrinol Metab (1995) 1.27
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. Diabetes (1999) 1.27
Effect of somatostatin infusion on intermediary metabolism and entero-insular hormone release in infants with hyperinsulinaemic hypoglycaemia. Acta Paediatr Scand (1981) 1.20
Stimulation of pancreatic islet metabolism and insulin release by a nonmetabolizable amino acid. Proc Natl Acad Sci U S A (1981) 1.16
Ionic control of beta cell function in nesidioblastosis. A possible therapeutic role for calcium channel blockade. Arch Dis Child (1996) 1.14
Hyperinsulinism: molecular aetiology of focal disease. Arch Dis Child (1998) 1.08
Evaluation of fasts for investigating hypoglycaemia or suspected metabolic disease. Arch Dis Child (1996) 1.08
Persistent neonatal hyperinsulinism. Clin Pediatr (Phila) (1988) 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
The role of pancreatic insulin secretion in neonatal glucoregulation. I. Healthy term and preterm infants. Arch Dis Child (1993) 1.03
The role of pancreatic insulin secretion in neonatal glucoregulation. II. Infants with disordered blood glucose homoeostasis. Arch Dis Child (1993) 1.02
Persistent hyperinsulinaemic hypoglycaemia of infancy: therapy, clinical outcome and mutational analysis. Eur J Pediatr (1997) 1.01
Engineering a glucose-responsive human insulin-secreting cell line from islets of Langerhans isolated from a patient with persistent hyperinsulinemic hypoglycemia of infancy. J Biol Chem (1999) 0.96
Therapy for persistent hyperinsulinemic hypoglycemia of infancy. Understanding the responsiveness of beta cells to diazoxide and somatostatin. J Clin Invest (1997) 0.95
Nesidioblastosis unravelled. Arch Dis Child (1996) 0.93
Hyperinsulinism of infancy: towards an understanding of unregulated insulin release. European Network for Research into Hyperinsulinism in Infancy. Arch Dis Child Fetal Neonatal Ed (2000) 0.91
Hyperinsulinaemic hypoglycaemia in infancy and childhood: a practical approach to diagnosis and medical treatment based on experience of 18 cases. Acta Paediatr Hung (1984) 0.90
Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism. Hum Mutat (1999) 0.89
Ions and genes in persistent hyperinsulinaemic hypoglycaemia in infancy: a commentary on the implications for tailoring treatment to disease pathogenesis. J Pediatr Endocrinol Metab (1998) 0.88
Averted sudden neonatal death due to pancreatic nesidioblastosis. Lancet (1978) 0.88
Intra-arterial calcium stimulation test in the investigation of hyperinsulinaemic hypoglycaemia. Arch Dis Child (1998) 0.88
Management of prolonged hypoglycaemia in Beckwith's syndrome. Postgrad Med J (1977) 0.88
Plasma proinsulin and C-peptide concentrations in children with hyperinsulinaemic hypoglycaemia. Acta Paediatr Scand (1984) 0.87
Clinical and molecular heterogeneity of familial hyperinsulinism. J Pediatr (1998) 0.86
Hyperinsulinism in infancy and childhood. Ergeb Inn Med Kinderheilkd (1984) 0.85
Transient lactic acidosis and hyperalaninaemia associated with neonatal hyperinsulinaemic hypoglycaemia: the effects of dichloroacetate (DCA). Eur J Pediatr (1983) 0.84
Fetal hyperinsulinism in rhesus isoimmunization. Am J Obstet Gynecol (1978) 0.82
Growth hormone secretagogues: the clinical future. Horm Res (1999) 0.82
Management of secondary diabetes mellitus after total pancreatectomy in infancy. Arch Dis Child (1984) 0.82
Diabetes mellitus 14 years after a subtotal pancreatectomy for neonatal hyperinsulinism. J Pediatr Surg (1990) 0.79
Measuring the quality of life of cancer patients: a concise QL-index for use by physicians. J Chronic Dis (1981) 7.00
Genome sequence of Halobacterium species NRC-1. Proc Natl Acad Sci U S A (2000) 5.87
Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta (1994) 4.93
Effects of organizational change in the medical intensive care unit of a teaching hospital: a comparison of 'open' and 'closed' formats. JAMA (1996) 4.71
A mesoscale phytoplankton bloom in the polar Southern Ocean stimulated by iron fertilization. Nature (2000) 4.36
Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome. Nat Med (1998) 3.75
Hippocampal volume in adolescent-onset alcohol use disorders. Am J Psychiatry (2000) 3.67
Rapid active transport of immunoglobulin A from blood to bile. J Exp Med (1978) 3.62
Clinical features of 52 neonates with hyperinsulinism. N Engl J Med (1999) 3.35
Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature (1994) 3.33
Subcutaneous low-molecular-weight heparin compared with continuous intravenous heparin in the treatment of proximal-vein thrombosis. N Engl J Med (1992) 3.23
Sex differences in brain maturation during childhood and adolescence. Cereb Cortex (2001) 3.17
Comparison of potency of inhaled beclomethasone and budesonide in New Zealand: retrospective study of computerised general practice records. BMJ (1998) 3.15
Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet (1989) 2.98
A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort. Am J Hum Genet (1999) 2.88
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet (2000) 2.87
Large scale identification of genes involved in cell surface biosynthesis and architecture in Saccharomyces cerevisiae. Genetics (1997) 2.81
Hemangiomas, vascular malformations, and lymphovenous malformations: classification and methods of treatment. Plast Reconstr Surg (1993) 2.80
The nucleotide sequence of chromosome I from Saccharomyces cerevisiae. Proc Natl Acad Sci U S A (1995) 2.74
Improved survival in ARDS patients associated with a reduction in pulmonary capillary wedge pressure. Chest (1990) 2.61
Evaluation of anticoagulant control in a pharmacist operated anticoagulant clinic. J Clin Pathol (1995) 2.58
Characterization of hepatitis C virus envelope glycoprotein complexes expressed by recombinant vaccinia viruses. J Virol (1993) 2.58
Contribution of increasing CO2 and climate to carbon storage by ecosystems in the United States. Science (2000) 2.51
Occurrence of specific antibodies of the IgA class in the bile of rats. Int Arch Allergy Appl Immunol (1979) 2.46
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest (1990) 2.46
Loss of functional KATP channels in pancreatic beta-cells causes persistent hyperinsulinemic hypoglycemia of infancy. Nat Med (1996) 2.40
Use of perioperative mupirocin to prevent methicillin-resistant Staphylococcus aureus (MRSA) orthopaedic surgical site infections. J Hosp Infect (2003) 2.40
Penetration of the skull base by dissecting keratocyst. J Craniomaxillofac Surg (1993) 2.16
Primary aneurysmal bone cysts in children: percutaneous sclerotherapy with absolute alcohol and proposal of a vascular classification. Pediatr Radiol (2012) 2.15
Inflammation and brain injury: acute cerebral ischaemia, peripheral and central inflammation. Brain Behav Immun (2009) 2.13
Congenital lumbosacral lipomas. Childs Nerv Syst (1997) 2.11
Magnetic resonance imaging in antenatal diagnosis of tuberous sclerosis. Lancet (1992) 2.09
The impact of course attendance on the practice of dentists. Br Dent J (2004) 2.08
Anti-miRNA oligonucleotides (AMOs): ammunition to target miRNAs implicated in human disease? Gene Ther (2006) 2.07
Septicemia caused by Pseudomonas paucimobilis. Am J Clin Pathol (1979) 2.06
Haemangioma of the body of the mandible: a case report. Br J Oral Maxillofac Surg (2003) 2.05
Osteopathy and resistance to vitamin D toxicity in mice null for vitamin D binding protein. J Clin Invest (1999) 2.02
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest (2001) 2.01
The management of oesophageal carcinoma: radiotherapy or surgery? Cost considerations. Eur J Cancer Clin Oncol (1989) 2.00
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest (2000) 1.97
Superior temporal sulcus anatomical abnormalities in childhood autism: a voxel-based morphometry MRI study. Neuroimage (2004) 1.93
Spatial separation of protein domains is not necessary for catalytic activity or substrate binding in a xylanase. Biochem J (1990) 1.93
A framework to study the cortical folding patterns. Neuroimage (2004) 1.90
True hermaphroditism: genetic variants and clinical management. J Pediatr (1994) 1.84
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet (1993) 1.79
Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role. Histopathology (1998) 1.78
The N-terminal region of an endoglucanase from Pseudomonas fluorescens subspecies cellulosa constitutes a cellulose-binding domain that is distinct from the catalytic centre. Mol Microbiol (1990) 1.76
Biological functions of p53 isoforms through evolution: lessons from animal and cellular models. Cell Death Differ (2011) 1.74
Enterovirus infection in human pancreatic islet cells, islet tropism in vivo and receptor involvement in cultured islet beta cells. Diabetologia (2004) 1.71
Predisposition to and late onset of upper airway obstruction following angiotensin-converting enzyme inhibitor therapy. Chest (1992) 1.70
Biogeography and ecological setting of Indian Ocean hydrothermal vents. Science (2001) 1.69
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet (1995) 1.68
The effects of a neuregulin 1 variant on white matter density and integrity. Mol Psychiatry (2007) 1.68
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. J Inherit Metab Dis (2012) 1.66
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France. Am J Hum Genet (1988) 1.66
Spontaneous remission of primary hyperparathyroidism from parathyroid apoplexy. J Clin Endocrinol Metab (1996) 1.66
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
Evidence for a general role for non-catalytic thermostabilizing domains in xylanases from thermophilic bacteria. Biochem J (1995) 1.64
Elevated protease activities in human amnion and chorion correlate with preterm premature rupture of membranes. Am J Obstet Gynecol (1995) 1.62
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest (1998) 1.58
Proposal for a standardized protocol for 18F-DOPA-PET (PET/CT) in congenital hyperinsulinism. Horm Res (2006) 1.58
MR findings in infantile Refsum disease: case report of two family members. AJNR Am J Neuroradiol (1992) 1.58
Dark matter search results from the CDMS II experiment. Science (2010) 1.57
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation (1999) 1.57
Right amygdala volume in adolescent and young adult offspring from families at high risk for developing alcoholism. Biol Psychiatry (2001) 1.57
Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation. Proc Natl Acad Sci U S A (1991) 1.56
Using graded motor imagery for complex regional pain syndrome in clinical practice: failure to improve pain. Eur J Pain (2011) 1.56
Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. N Engl J Med (1997) 1.55
Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension. J Neurosurg (1989) 1.55
Serial transabdominal amnioinfusion in the management of gastroschisis with severe oligohydramnios. J Pediatr Surg (1996) 1.54
Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia. Pediatrics (2001) 1.53
Molecular cloning of multiple xylanase genes from Pseudomonas fluorescens subsp. cellulosa. J Gen Microbiol (1988) 1.53
Incremental change in the Australian health care system. Health Aff (Millwood) (1999) 1.52
Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency. J Pediatr (1993) 1.52
Prolonged ambulatory colonic manometric studies using endoclips. Gastrointest Endosc (2000) 1.52
Fetal lung volume: estimation at MR imaging-initial results. Radiology (2001) 1.52
A primal sketch of the cortex mean curvature: a morphogenesis based approach to study the variability of the folding patterns. IEEE Trans Med Imaging (2003) 1.49
Clinical approach to inherited peroxisomal disorders: a series of 27 patients. Ann Neurol (1998) 1.49
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. Nat Genet (1996) 1.49
The blockade of Fc receptor-mediated clearance of immune complexes in vivo by a monoclonal antibody (2.4G2) directed against Fc receptors on murine leukocytes. J Immunol (1984) 1.48
Genetics of neonatal hyperinsulinism. Arch Dis Child Fetal Neonatal Ed (2000) 1.47
Summertime actinic lichenoid eruption, a distinct entity, should be termed actinic lichen nitidus. Arch Dermatol (1998) 1.47
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. Hum Mol Genet (2000) 1.47
A pilot longitudinal study of hippocampal volumes in pediatric maltreatment-related posttraumatic stress disorder. Biol Psychiatry (2001) 1.46
Lumbar spine surgery in the obese patient. J Spinal Disord (1997) 1.45
Accuracy of a portable interpretive ECG machine in diagnosis of acute evolving myocardial infarction. Aust N Z J Med (1992) 1.44
ICA69 is expressed equally in the human endocrine and exocrine pancreas. Diabetologia (1996) 1.44
Hyperinsulinaemic hypoglycaemia. Arch Dis Child (2009) 1.44