A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.

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Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey.

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A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.

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A Deep Intronic HADH Splicing ...... se: Long Term Clinical Course.

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A Deep Intronic HADH Splicing ...... se: Long Term Clinical Course.

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A Deep Intronic HADH Splicing ...... se: Long Term Clinical Course.

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A Deep Intronic HADH Splicing ...... se: Long Term Clinical Course.

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P2093

Khalid Hussain

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Merih Berberoğlu

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Pınar Kocaay

http://www.w3.org/2001/XMLSchema#string

Zeynep Şıklar

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P2860

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

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

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

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.

Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees

Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase.

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management.

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scholarly article

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10.4274/JCRPE.1963

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Sian Ellard

Sarah E Flanagan

Emine Camtosun

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2015-06-01T00:00:00Z

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279158162

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hypoglycemia

birth defect

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4563187

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A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.

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P2860

P2860

A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.

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