(Q37974513)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231386%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231386%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

0 references

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231386%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Senthil Senniappan

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231386%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Balasubramaniam Shanti

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231386%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Khalid Hussain

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231386%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

publication date

10 January 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231386%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

20 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231386%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231386%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231386%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

589-601

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231386%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10545-011-9441-2

20 January 2020

exact match

0 references

cites work

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Glucose induces closure of single potassium channels in isolated rat pancreatic beta-cells

21 January 2018

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Practical management of hyperinsulinism in infancy

21 January 2018

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Neurological aspects of hyperinsulinism-hyperammonaemia syndrome

21 January 2018

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Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome

21 January 2018

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Hyperinsulinism in tyrosinaemia type I.

21 January 2018

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The laparoscopic approach toward hyperinsulinism in children

21 January 2018

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A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

21 January 2018

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Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency).

21 January 2018

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Dumping syndrome: a common problem following Nissen fundoplication in young children

21 January 2018

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Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy

21 January 2018

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Increased uncoupling protein-2 levels in beta-cells are associated with impaired glucose-stimulated insulin secretion: mechanism of action

21 January 2018

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Rapid Genetic Analysis in Congenital Hyperinsulinism

21 January 2018

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Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion

21 January 2018

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Assembly, maturation, and turnover of K(ATP) channel subunits

21 January 2018

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Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation

21 January 2018

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Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy

21 January 2018

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Prolonged hyperinsulinaemic hypoglycaemia in newborns with intrauterine growth retardation

21 January 2018

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The surgical management of congenital hyperinsulinemic hypoglycemia in infancy

21 January 2018

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Glycemic response to glucagon during fasting hypoglycemia: an aid in the diagnosis of hyperinsulinism.

21 January 2018

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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

21 January 2018

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Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

21 January 2018

1 reference

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Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia

21 January 2018

1 reference

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Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees

21 January 2018

1 reference

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Hypoglycemia complicating bariatric surgery: incidence and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy

21 January 2018

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Familial hyperinsulinism caused by an activating glucokinase mutation

21 January 2018

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Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion

21 January 2018

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Pancreatic islet adaptation to fasting is dependent on peroxisome proliferator-activated receptor alpha transcriptional up-regulation of fatty acid oxidation

21 January 2018

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Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism

21 January 2018

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Functional genomics of the beta-cell: short-chain 3-hydroxyacyl-coenzyme A dehydrogenase regulates insulin secretion independent of K+ currents.

21 January 2018

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Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.

21 January 2018

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A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene

21 January 2018

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Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome.

21 January 2018

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Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.

21 January 2018

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Hyperinsulinemic Hypoglycemia in Beckwith-Wiedemann Syndrome due to Defects in the Function of Pancreatic β-Cell Adenosine Triphosphate-Sensitive Potassium Channels

21 January 2018

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Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during management

21 January 2018

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Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor

21 January 2018

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Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!

21 January 2018

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The genetic basis of congenital hyperinsulinism

21 January 2018

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Loss of functional KATP channels in pancreatic beta-cells causes persistent hyperinsulinemic hypoglycemia of infancy

21 January 2018

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Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations

21 January 2018

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Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations

21 January 2018

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

21 January 2018

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Hyperinsulinism in developmental syndromes

21 January 2018

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Necrotizing enterocolitis in neonates receiving octreotide for the management of congenital hyperinsulinism

21 January 2018

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Insulin-like growth factor binding protein-1 levels in the diagnosis of hypoglycemia caused by hyperinsulinism.

21 January 2018

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Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase

21 January 2018

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A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels

21 January 2018

1 reference

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Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.

21 January 2018

1 reference

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Regulation of pancreatic beta-cell glucokinase: from basics to therapeutics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Exercise induced hypoglycaemic hyperinsulinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Massive insulin secretion in response to anaerobic exercise in exercise-induced hyperinsulinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Management of prolonged hypoglycaemia in Beckwith's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Hyperinsulinism and Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells

21 January 2018

1 reference

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Hyperinsulinism in infancy and childhood: when an insulin level is not always enough

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Increased glucagon-like peptide-1 secretion and postprandial hypoglycemia in children after Nissen fundoplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Hepatocyte nuclear factor 4α gene mutation associated with familial neonatal hyperinsulinism and maturity-onset diabetes of the young.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Malonyl-CoA signaling, lipid partitioning, and glucolipotoxicity: role in beta-cell adaptation and failure in the etiology of diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Persistent hyperinsulinaemic hypoglycaemia of infancy: a heterogeneous syndrome unrelated to nesidioblastosis

21 January 2018

1 reference

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Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations

21 January 2018

1 reference

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Focal and diffuse forms of congenital hyperinsulinism: the keys for differential diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Insulinoma: pathophysiology, localization and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Tissue-specific deletion of Foxa2 in pancreatic beta cells results in hyperinsulinemic hypoglycemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Short- and long-term use of octreotide in the treatment of congenital hyperinsulinism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Systemic activation of glutamate dehydrogenase increases renal ammoniagenesis: implications for the hyperinsulinism/hyperammonemia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Molecular determinants of KATP channel inhibition by ATP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Severe transient hyperinsulinaemic hypoglycaemia: two neonates without predisposing factors and a review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Expression and distribution of lactate/monocarboxylate transporter isoforms in pancreatic islets and the exocrine pancreas

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

PERSISTENT HYPERINSULINAEMIC HYPOGLYCAEMIA OF INFANCY: LONG-TERM TREATMENT WITH THE SOMATOSTATIN ANALOGUE SANDOSTATIN

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Intracellular ATP directly blocks K+ channels in pancreatic B-cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9441-2

Costello syndrome with pancreatic islet cell hyperplasia

21 January 2018

1 reference

12 December 2020

Persistent neonatal hyperinsulinism

1 reference

12 December 2020

[Trisomy 13 and neonatal hyperinsulinism]

1 reference

12 December 2020

Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A)

1 reference

12 December 2020

The MODY1 gene HNF-4alpha regulates selected genes involved in insulin secretion

1 reference

12 December 2020

[Insulin autoimmune syndrome]

1 reference

12 December 2020

Hyperinsulinism in asphyxiated and small-for-dates infants with hypoglycaemia

1 reference

12 December 2020

Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography.

1 reference

12 December 2020

Noninsulinoma pancreatogenous hypoglycemia: a novel syndrome of hyperinsulinemic hypoglycemia in adults independent of mutations in Kir6.2 and SUR1 genes

1 reference

12 December 2020

Treatment of congenital hyperinsulinism with lanreotide acetate (Somatuline Autogel)

1 reference

12 December 2020

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose

1 reference

12 December 2020

Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis

1 reference

12 December 2020

10.1007/S10545-011-9441-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231386%20AND%20SRC:MED&resulttype=core&format=json

release_esam4kagc5a5hbry3b7unhhbqm

20 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/esam4kagc5a5hbry3b7unhhbqm

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231386%20AND%20SRC:MED&resulttype=core&format=json