Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations. - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q37193748

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Homotropic allosteric regulation in monomeric mammalian glucokinase Structural Basis for Regulation of Human Glucokinase by Glucokinase Regulatory Protein Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.A family-based probabilistic method for capturing de novo mutations from high-throughput short-read sequencing data Thermal stability of glucokinase (GK) as influenced by the substrate glucose, an allosteric glucokinase activator drug (GKA) and the osmolytes glycerol and urea Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage Estimating error models for whole genome sequencing using mixtures of Dirichlet-multinomial distributions.Genotype and phenotype correlations in 417 children with congenital hyperinsulinism Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.Asymptomatic Congenital Hyperinsulinism due to a Glucokinase-Activating Mutation, Treated as Adrenal Insufficiency for Twelve Years Mutational analysis of allosteric activation and inhibition of glucokinase.Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.Susceptibility of glucokinase-MODY mutants to inactivation by oxidative stress in pancreatic β-cells.Congenital hyperinsulinism caused by hexokinase I expression or glucokinase-activating mutation in a subset of β-cells.Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.Monogenic hyperinsulinemic hypoglycemia: current insights into the pathogenesis and management.Glucokinase mutation-a rare cause of recurrent hypoglycemia in adults: a case report and literature review.Approach to hypoglycemia in infants and children.Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.Nutrient sensing in pancreatic islets: lessons from congenital hyperinsulinism and monogenic diabetes.

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P2860

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

http://www.wikidata.org/entity/Q37193748

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

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scientific article published on 31 March 2009

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Extremes of clinical and enzym ...... cokinase activating mutations.

@en

Extremes of clinical and enzym ...... cokinase activating mutations.

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type

label

Extremes of clinical and enzym ...... cokinase activating mutations.

@en

Extremes of clinical and enzym ...... cokinase activating mutations.

@nl

prefLabel

Extremes of clinical and enzym ...... cokinase activating mutations.

@en

Extremes of clinical and enzym ...... cokinase activating mutations.

@nl

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Extremes of clinical and enzym ...... cokinase activating mutations.

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Alisa B Schiffman

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Carol Buettger

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David R Langdon

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Franz M Matschinsky

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Joseph Grimsby

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Mariko Suchi

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Pan Chen

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Rebecca Taub

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Samir Sayed

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Stella Odili

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P2860

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

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

Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

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

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

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

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

Structural basis for allosteric regulation of the monomeric allosteric enzyme human glucokinase.

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

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1419-1427

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scholarly article

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10.2337/DB08-1792

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Charles A Stanley

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2009-03-31T00:00:00Z

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