(Q47860150)

English

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

scientific article published in January 2004

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15669683%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15669683%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

dehydrogenation

1 reference

based on heuristic

inferred from title

Brage Storstein Andresen

6

1 reference

Europe PubMed Central

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7 January 2020

1

1 reference

Europe PubMed Central

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7 January 2020

Morteza Pourfarzam

2

1 reference

Europe PubMed Central

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7 January 2020

author name string

A A M Morris

3

1 reference

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7 January 2020

R C Dias

4

1 reference

Europe PubMed Central

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7 January 2020

I Knudsen

5

1 reference

Europe PubMed Central

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7 January 2020

N Gregersen

7

1 reference

Europe PubMed Central

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7 January 2020

S E Olpin

8

1 reference

Europe PubMed Central

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7 January 2020

publication date

1 January 2004

1 reference

Europe PubMed Central

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7 January 2020

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

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7 January 2020

27

1 reference

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7 January 2020

5

1 reference

Europe PubMed Central

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7 January 2020

671-678

1 reference

Europe PubMed Central

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7 January 2020

https://scigraph.springernature.com/pub.10.1023/b:boli.0000042986.10291.e9

0 references

Lipid storage myopathy due to glutaric aciduria type II: treatment of a potentially fatal myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning and nucleotide sequence of cDNAs encoding the alpha-subunit of human electron transfer flavoprotein

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disorders of lipid metabolism in skeletal muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Riboflavin therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonsense-mediated mRNA decay in health and disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sleep-disordered breathing and respiratory failure in acid maltase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Respiratory involvement in primary muscle disorders: assessment and management.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

cDNA cloning and mitochondrial import of the beta-subunit of the human electron-transfer flavoprotein

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Late-onset form of beta-electron transfer flavoprotein deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myopathy associated with abnormal lipid metabolism in skeletal muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple acyl-coenzyme A dehydrogenation disorder responsive to riboflavin: substrate oxidation, flavin metabolism, and flavoenzyme activities in fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-3H]oleic acid

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15669683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/B:BOLI.0000042986.10291.E9

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15669683%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Dimensions Publication ID

0 references

release_gtxgrowennafxdyybc765drmgi

1 reference

https://api.fatcat.wiki/v0/release/gtxgrowennafxdyybc765drmgi

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15669683%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

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