(Q36688366)

15 August 2017

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title

Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates (English)

1 reference

15 August 2017

Charles A Stanley

2

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author name string

Diva D De León

series ordinal

1

1 reference

15 August 2017

1 January 2007

1 reference

Nature Clinical Practice Endocrinology and Metabolism

15 August 2017

1 reference

15 August 2017

3

1 reference

15 August 2017

1

1 reference

15 August 2017

57-68

1 reference

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

15 August 2017

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

Should nifedipine be used to counter low blood sugar levels in children with persistent hyperinsulinaemic hypoglycaemia?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Familial hyperinsulinism caused by an activating glucokinase mutation

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Hyperinsulinism in infancy: from basic science to clinical disease.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Beta cell nesidioblastosis in idiopathic hypoglycemia of infancy

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Glutaminolysis and insulin secretion: from bedside to bench and back

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Dominantly inherited hyperinsulinaemic hypoglycaemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Clinical features and insulin regulation in infants with a syndrome of prolonged neonatal hyperinsulinism

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Molecular genetics of Wiedemann-Beckwith syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Hyperinsulinism and Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Hypoglycemia in Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Hyperinsulinism in children: diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Accumulation of dopamine in mouse pancreatic B-cells following injection of L-DOPA. Localization to secretory granules and inhibition of insulin secretion

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Persistent hyperinsulinemic hypoglycemia of infancy: Long-term octreotide treatment without pancreatectomy

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Congenital Hyperinsulinism

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Laparoscopic diagnosis and cure of hyperinsulinism in two cases of focal adenomatous hyperplasia in infancy

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Long-term follow-up of 114 patients with congenital hyperinsulinism

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Effects of hypoglycemia on developmental outcome in children with congenital hyperinsulinism.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0368

7 January 2021

Identifiers

DOI

10.1038/NCPENDMET0368

1 reference

15 August 2017

1 reference

PubMed ID

17179930