(Q51127204)

30 March 2018

title

Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening. (English)

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30 March 2018

author

Flavio Faletra

7

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30 March 2018

Chiara Grimaldi

Chiara Grimaldi

9

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Fabrizio Barbetti

Fabrizio Barbetti

2

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Jean De Ville De Goyet

Jean de Ville de Goyet

10

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Carlo Dionisi-Vici

Carlo Dionisi-Vici

13

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author name string

Arianna Maiorana

1

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30 March 2018

Arianna Boiani

3

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Vittoria Rufini

4

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30 March 2018

Milena Pizzoferro

5

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30 March 2018

Paola Francalanci

6

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30 March 2018

Colin G Nichols

8

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Jacques Rahier

11

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Jean-Claude Henquin

12

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publication date

30 January 2014

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30 March 2018

published in

Clinical Endocrinology

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30 March 2018

volume

81

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30 March 2018

issue

5

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page(s)

679-688

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30 March 2018

Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates

cites work

1 reference

Advances in the diagnosis and management of hyperinsulinemic hypoglycemia

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1 reference

Congenital hyperinsulinism: current trends in diagnosis and therapy

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Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.

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Rare forms of congenital hyperinsulinism

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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

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The diagnosis of ectopic focal hyperinsulinism of infancy with [18F]-dopa positron emission tomography.

21 January 2018

1 reference

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism

21 January 2018

1 reference

Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management

21 January 2018

1 reference

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21 January 2018

1 reference

p57(KIP2) expression in normal islet cells and in hyperinsulinism of infancy.

21 January 2018

1 reference

In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions

21 January 2018

1 reference

Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria.

21 January 2018

1 reference

Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1

21 January 2018

1 reference

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

21 January 2018

1 reference

Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene.

21 January 2018

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Neonatal Hyperinsulinism.

21 January 2018

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Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.

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Disposition of diazoxide in children.

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Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy

21 January 2018

1 reference

Congenital hyperinsulinism caused by hexokinase I expression or glucokinase-activating mutation in a subset of β-cells

21 January 2018

1 reference

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

21 January 2018

1 reference

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

21 January 2018

1 reference

Congenital hyperinsulinism

21 January 2018

1 reference

The added value of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy: a retrospective study involving 49 children

21 January 2018

1 reference

Control of insulin secretion by sulfonylureas, meglitinide and diazoxide in relation to their binding to the sulfonylurea receptor in pancreatic islets

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CEN.12400

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30 March 2018

PubMed ID

24383515

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30 March 2018