(Q37673065)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21088898%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle (English)

1 reference

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16 January 2020

1 reference

3

1 reference

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16 January 2020

author name string

Lynne A Wolfe

1

1 reference

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16 January 2020

Miao He

2

1 reference

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16 January 2020

Nicole Payne

4

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16 January 2020

William Rhead

5

1 reference

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16 January 2020

Charles Hoppel

6

1 reference

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16 January 2020

Elaine Spector

7

1 reference

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16 January 2020

Kim Gernert

8

1 reference

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16 January 2020

K Michael Gibson

9

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16 January 2020

publication date

19 November 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21088898%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

16 January 2020

published in

1 reference

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16 January 2020

volume

33 Suppl 3

1 reference

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16 January 2020

page(s)

S481-7

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https://scigraph.springernature.com/pub.10.1007/s10545-010-9246-8

16 January 2020

exact match

0 references

cites work

Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male.

1 reference

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ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

23 August 2017

1 reference

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Impact of mutations on the midpoint potential of the [4Fe-4S]+1,+2 cluster and on catalytic activity in electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO)

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970109

Dynamics driving function: new insights from electron transferring flavoproteins and partner complexes.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970109

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970109

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970109

Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool

23 August 2017

1 reference

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Modulation of electron transport protects cardiac mitochondria and decreases myocardial injury during ischemia and reperfusion.

23 August 2017

1 reference

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Electron transfer flavoprotein deficiency: functional and molecular aspects

23 August 2017

1 reference

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The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970109

Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970109

Analysis of carnitine esters by radio-high performance liquid chromatography in cultured skin fibroblasts from patients with mitochondrial fatty acid oxidation disorders

14 September 2017

1 reference

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Reaction of electron-transfer flavoprotein ubiquinone oxidoreductase with the mitochondrial respiratory chain

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970109

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970109

Fatty acid oxidation in cardiac and skeletal muscle mitochondria is unaffected by deletion of CD36.

1 September 2018

1 reference

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So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970109

Decreased activity of respiratory-chain enzymes in glutaric aciduria type II

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-010-9246-8

The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21088898

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Disorders of the mitochondria

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21088898

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Characterization of a mutation that abolishes quinone reduction by electron transfer flavoprotein-ubiquinone oxidoreductase

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21088898

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-010-9246-8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21088898%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21088898%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference