(Q24301853)

fatty acid beta-oxidation using acyl-CoA dehydrogenase

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

0 references

16

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Hanns Lochmüller

15

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Haluk Topaloglu

2

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Salvatore DiMauro

13

object named as

Salvatore DiMauro

0 references

Benedikt Schoser

1 reference

ORCID Public Data File 2021

author name string

Klaus Gempel

1

0 references

Beril Talim

3

0 references

Peter Schneiderat

4

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Benedikt G H Schoser

5

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Volkmar H Hans

6

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Beatrix Pálmafy

7

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Gulsev Kale

8

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Aysegul Tokatli

9

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Catarina Quinzii

10

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Michio Hirano

11

0 references

Ali Naini

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

12

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language of work or name

English

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publication date

August 2007

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published in

Brain

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volume

130

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issue

Pt 8

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page(s)

2037-44

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345103

Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345103

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345103

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345103

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345103

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345103

Coenzyme Q-responsive Leigh's encephalopathy in two sisters

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345103

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345103

Cerebellar ataxia and coenzyme Q10 deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345103

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345103

Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345103

Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345103

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

30 May 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM054

Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM054

Coenzyme Q10 deficiency and isolated myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM054

Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM054

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency

21 January 2018

1 reference

12 December 2020

Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset

1 reference

12 December 2020

Pathogenic mutations in the carboxyl-terminal domain of glutaryl-CoA dehydrogenase: effects on catalytic activity and the stability of the tetramer

1 reference

12 December 2020

Glutaric aciduria type II: Report on a previously undescribed metabolic disorder

1 reference

12 December 2020

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

1 reference

12 December 2020