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

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

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

http://www.wikidata.org/entity/Q34286002

about

The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia Mechanisms of amino acid-stimulated insulin secretion in congenital hyperinsulinism Multiple Forms of Glutamate Dehydrogenase in Animals: Structural Determinants and Physiological Implications Mitochondrial regulation of β-cell function: maintaining the momentum for insulin release Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene Specificity in beta cell expression of L-3-hydroxyacyl-CoA dehydrogenase, short chain, and potential role in down-regulating insulin release Insulin secretion and insulin-producing tumors Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.ATP-sensitive potassium channelopathies: focus on insulin secretion Congenital hyperinsulinism: current status and future perspectives.Molecular mechanisms of protein induced hyperinsulinaemic hypoglycaemia.Foxa1 and Foxa2 maintain the metabolic and secretory features of the mature beta-cell Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase associates with a protein super-complex integrating multiple metabolic pathways Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees ProphNet: a generic prioritization method through propagation of information Dimerization interface of 3-hydroxyacyl-CoA dehydrogenase tunes the formation of its catalytic intermediate.The structure and allosteric regulation of mammalian glutamate dehydrogenase.Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.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 The molecular mechanisms, diagnosis and management of congenital hyperinsulinism The Hypoglycemic Phenotype Is Islet Cell-Autonomous in Short-Chain Hydroxyacyl-CoA Dehydrogenase-Deficient Mice.Foxa2 regulates multiple pathways of insulin secretion.The Glutamate Dehydrogenase Pathway and Its Roles in Cell and Tissue Biology in Health and Disease.The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results.Two genetic forms of hyperinsulinemic hypoglycemia caused by dysregulation of glutamate dehydrogenase.Current understanding of K ATP channels in neonatal diseases: focus on insulin secretion disorders.HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.Knowledge representation in metabolic pathway databases.Integrating genetic and imaging investigations into the clinical management of congenital hyperinsulinism.Deregulation of glutamate dehydrogenase in human neurologic disorders.Glutamate dehydrogenase: structure, allosteric regulation, and role in insulin homeostasis.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.

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

http://www.wikidata.org/entity/Q34286002

description

2004 nî lūn-bûn

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2004 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2004 թվականի հունվարին հրատարակված գիտական հոդված

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2004年の論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年论文

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Familial hyperinsulinemic hypo ...... hondrial fatty acid oxidation.

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Familial hyperinsulinemic hypo ...... hondrial fatty acid oxidation.

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Familial hyperinsulinemic hypo ...... hondrial fatty acid oxidation.

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Familial hyperinsulinemic hypo ...... hondrial fatty acid oxidation.

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Familial hyperinsulinemic hypo ...... hondrial fatty acid oxidation.

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Familial hyperinsulinemic hypo ...... hondrial fatty acid oxidation.

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DIABETES.53.1.221

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Familial hyperinsulinemic hypo ...... hondrial fatty acid oxidation.

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Egil Jellum

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Guri E Matre

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Marinus Duran

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Oddmund Søvik

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Ronald J Wanders

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Unni Rishaug

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221-227

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scholarly article

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10.2337/DIABETES.53.1.221

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Pål R Njølstad

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2004-01-01T00:00:00Z

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8943311

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