Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase (Q36207057)

12 August 2017

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

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12 August 2017

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Amanda J Heslegrave

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Sarah Flanagan

object named as

Sarah E Flanagan

7

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Sian Ellard

object named as

Sian Ellard

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author name string

Ritika R Kapoor

2

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12 August 2017

Simon Eaton

3

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12 August 2017

Bernadette Chadefaux

4

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12 August 2017

Teoman Akcay

5

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12 August 2017

Enver Simsek

6

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12 August 2017

Khalid Hussain

9

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12 August 2017

14 May 2012

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Orphanet Journal of Rare Diseases

12 August 2017

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12 August 2017

7

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12 August 2017

25

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https://scigraph.springernature.com/pub.10.1186/1750-1172-7-25

12 August 2017

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cites work

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

1 reference

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Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433310

Specificity in beta cell expression of L-3-hydroxyacyl-CoA dehydrogenase, short chain, and potential role in down-regulating insulin release

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433310

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433310

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433310

Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome.

1 October 2017

1 reference

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A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 October 2017

1 reference

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Hydroxyacyl CoA dehydrogenase, an enzyme important in fat metabolism in different cell types in the islets of Langerhans

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433310

3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity.

1 October 2017

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-25

Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-25

Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-25

Systemic activation of glutamate dehydrogenase increases renal ammoniagenesis: implications for the hyperinsulinism/hyperammonemia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-25

Functional genomics of the beta-cell: short-chain 3-hydroxyacyl-coenzyme A dehydrogenase regulates insulin secretion independent of K+ currents.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433310

Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators

22 September 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-25

Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics

21 January 2018

1 reference

12 December 2020

Regulation of insulin release by factors that also modify glutamate dehydrogenase

1 reference

12 December 2020

Protein-sensitive hypoglycemia without leucine sensitivity in hyperinsulinism caused by KATP channel mutations

1 reference

12 December 2020

Activation of bovine liver glutamate dehydrogenase by covalent reaction of adenosine 5'-O-[S-(4-bromo-2,3-dioxobutyl)thiophosphate] with arginine-459 at an ADP regulatory site

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-7-25

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Dimensions Publication ID

12 August 2017

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1 reference

12 August 2017

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