3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity.

Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. J Clin Endocrinol Metab (2011) 1.87

Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. J Biol Chem (2010) 1.68

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. Eur J Endocrinol (2010) 1.39

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. Eur J Endocrinol (2013) 1.26

Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management. J Inherit Metab Dis (2012) 1.14

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. Am J Hum Genet (2012) 1.14

The molecular mechanisms, diagnosis and management of congenital hyperinsulinism. Indian J Endocrinol Metab (2013) 1.05

The structure and allosteric regulation of mammalian glutamate dehydrogenase. Arch Biochem Biophys (2011) 1.03

Pathophysiology of fatty acid oxidation disorders. J Inherit Metab Dis (2009) 0.97

Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase. Orphanet J Rare Dis (2012) 0.94

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

The structure and allosteric regulation of glutamate dehydrogenase. Neurochem Int (2010) 0.85

3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations. JIMD Rep (2011) 0.82

Mechanisms of amino acid-stimulated insulin secretion in congenital hyperinsulinism. Acta Biochim Biophys Sin (Shanghai) (2012) 0.80

Japanese encephalitis virus nonstructural protein NS5 interacts with mitochondrial trifunctional protein and impairs fatty acid β-oxidation. PLoS Pathog (2015) 0.79

Two genetic forms of hyperinsulinemic hypoglycemia caused by dysregulation of glutamate dehydrogenase. Neurochem Int (2010) 0.79

Molecular mechanisms of protein induced hyperinsulinaemic hypoglycaemia. World J Diabetes (2014) 0.78

Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase associates with a protein super-complex integrating multiple metabolic pathways. PLoS One (2012) 0.78

A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course. J Clin Res Pediatr Endocrinol (2015) 0.77

A novel gene network analysis in liver tissues of diabetic rats in response to resistant starch treatment. Springerplus (2015) 0.76

Multiple Forms of Glutamate Dehydrogenase in Animals: Structural Determinants and Physiological Implications. Biology (Basel) (2016) 0.75

Dimerization interface of 3-hydroxyacyl-CoA dehydrogenase tunes the formation of its catalytic intermediate. PLoS One (2014) 0.75

Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia. BMC Res Notes (2015) 0.75

A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science (2007) 37.88

Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science (2007) 32.97

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med (2004) 8.62

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med (2006) 7.31

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes (2007) 3.82

Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab (2008) 3.80

Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A (2007) 3.77

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med (2007) 3.17

AIP mutation in pituitary adenomas in the 18th century and today. N Engl J Med (2011) 3.14

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet (2008) 3.06

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes (2007) 3.00

Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care (2007) 2.62

Recovery after open versus laparoscopic pyloromyotomy for pyloric stenosis: a double-blind multicentre randomised controlled trial. Lancet (2009) 2.51

Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia. N Engl J Med (2014) 2.47

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat (2009) 2.29

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet Test Mol Biomarkers (2010) 2.09

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

Unstandardized and defective evaluation practices in the examination system in pharmacy institutes of Pakistan. Am J Pharm Educ (2010) 2.04

Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young. Diabetes Care (2012) 1.95

Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet (2011) 1.94

Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stress. J Neurochem (2006) 1.91

The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development. Diabetes (2008) 1.88

Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. J Clin Endocrinol Metab (2011) 1.87

Mitochondrial beta-oxidation. Eur J Biochem (2004) 1.85

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science (2008) 1.84

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet (2006) 1.83

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet (2011) 1.77

Transcription factor HNF1beta and novel partners affect nephrogenesis. Kidney Int (2008) 1.73

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. Am J Hum Genet (2007) 1.73

Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. J Clin Invest (2003) 1.73

BPDZ 154 activates adenosine 5'-triphosphate-sensitive potassium channels: in vitro studies using rodent insulin-secreting cells and islets isolated from patients with hyperinsulinism. J Clin Endocrinol Metab (2002) 1.72

Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. Diabet Med (2011) 1.68

HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months. Diabetes (2006) 1.66

Moderate hypothermia as a rescue therapy against intestinal ischemia and reperfusion injury in the rat. Crit Care Med (2008) 1.59

Incidentally detected Meckel diverticulum: to resect or not to resect? Ann Surg (2008) 1.54

Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet (2005) 1.52

Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome). Nephron Clin Pract (2004) 1.51

Neurodevelopmental outcomes of neonates with medically and surgically treated necrotizing enterocolitis. Arch Dis Child Fetal Neonatal Ed (2006) 1.50

Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes. Diabetes Care (2003) 1.50

Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children. Pediatr Diabetes (2010) 1.48

Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-{alpha}/hepatocyte nuclear factor 4-{alpha} maturity-onset diabetes of the young from long-duration type 1 diabetes. Diabetes Care (2011) 1.48

Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia. J Pediatr Endocrinol Metab (2006) 1.47

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J Clin Endocrinol Metab (2007) 1.47

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3. Diabetes (2011) 1.47

Putting patients first. BMJ (2012) 1.45

Cost-effectiveness of laparoscopic versus open pyloromyotomy. J Surg Res (2012) 1.44

Outcomes following laparoscopic inguinal hernia repair in infants compared with older children. Pediatr Surg Int (2012) 1.42

Total glutathione is not decreased in infants with necrotizing enterocolitis. J Pediatr Surg (2005) 1.42

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int (2003) 1.39

Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers. Diabetes Care (2002) 1.38

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. J Clin Endocrinol Metab (2004) 1.38

Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. Diabetes (2006) 1.37

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proc Natl Acad Sci U S A (2010) 1.36

GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. Diabetes (2012) 1.36

Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. J Clin Endocrinol Metab (2009) 1.35

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations. Diabetes (2003) 1.33

Concordance of assays designed for the quantification of JAK2V617F: a multicenter study. Haematologica (2008) 1.33

High expression of the ectonucleotidase CD39 on T cells from the inflamed site identifies two distinct populations, one regulatory and one memory T cell population. J Immunol (2010) 1.33

Validation of bioelectrical impedance analysis in adolescents across different ethnic groups. Obesity (Silver Spring) (2009) 1.31

Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities. Diabetes (2010) 1.30

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet A (2008) 1.30

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat (2006) 1.29

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol (2009) 1.29

Peritoneal drainage or laparotomy for neonatal bowel perforation? A randomized controlled trial. Ann Surg (2008) 1.29

Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management. J Clin Res Pediatr Endocrinol (2012) 1.28

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. Rev Endocr Metab Disord (2010) 1.28

High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes. Diabetes Care (2011) 1.28

Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. Diabetes (2008) 1.27

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. Eur J Endocrinol (2013) 1.26

Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth. J Clin Endocrinol Metab (2013) 1.26

A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. Am J Med Genet A (2008) 1.25

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur J Hum Genet (2006) 1.25

Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. Hum Mol Genet (2006) 1.25

Antenatal diagnosis of fetal genotype determines if maternal hyperglycemia due to a glucokinase mutation requires treatment. Diabetes Care (2012) 1.25

Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. Eur J Endocrinol (2009) 1.23

Urinary intestinal fatty acid-binding protein concentration predicts extent of disease in necrotizing enterocolitis. J Pediatr Surg (2010) 1.23

A rat decellularized small bowel scaffold that preserves villus-crypt architecture for intestinal regeneration. Biomaterials (2012) 1.21

Congenital hyperinsulinism. Early Hum Dev (2010) 1.21

Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet (2004) 1.19