Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. - Wikidata - wikimedia - TriplyDB

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

http://www.wikidata.org/entity/Q33803843

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Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms Multidomain integration in the structure of the HNF-4α nuclear receptor complex Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes.The Genetic Architecture of Diabetes in Pregnancy: Implications for Clinical Practice.Congenital hyperinsulinism: current status and future perspectives.Double heterozygous mutations involving both HNF1A/MODY3 and HNF4A/MODY1 genes: a case report [Hyperinsulinemic hypoglycemia of the infancy: analysis of clinical data from a Brazilian sample].Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees Genotype and phenotype correlations in 417 children with congenital hyperinsulinism Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.The molecular mechanisms, diagnosis and management of congenital hyperinsulinism Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management.Integrating genetic and imaging investigations into the clinical management of congenital hyperinsulinism.Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators.Management of sulfonylurea-treated monogenic diabetes in pregnancy: implications of placental glibenclamide transfer.When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes.Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology.Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism.Monogenic hyperinsulinemic hypoglycemia: current insights into the pathogenesis and management.Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene.HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response.Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.Congenital Hyperinsulinism: Diagnosis and Treatment Update.MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.The evolving course of HNF4A hyperinsulinaemic hypoglycaemia--a case series.Congenital hyperinsulinism: global and Japanese perspectives.Prolonged episodes of hypoglycaemia in HNF4A-MODY mutation carriers with IGT. Evidence of persistent hyperinsulinism into early adulthood.Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations.Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives.Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic and gene variants The diagnosis and management of monogenic diabetes in children and adolescents

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Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

http://www.wikidata.org/entity/Q33803843

description

2010 nî lūn-bûn

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2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի փետրվարին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

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Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

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Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

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Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

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Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

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Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

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European Journal of Endocrinology

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Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

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B Schwahn

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D Cody

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G Mali

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I Banerjee

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J P H Shield

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

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

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

ATP-sensitive potassium channelopathies: focus on insulin secretion

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

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

Cross sectional stature and weight reference curves for the UK, 1990.

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

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