(Q31832846)

English

Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl

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Europe PubMed Central

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4 July 2017

Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

very long chain acyl-CoA dehydrogenase deficiency

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author name string

Fukao T

1

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4 July 2017

Watanabe H

2

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4 July 2017

Orii K

3

1 reference

Europe PubMed Central

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4 July 2017

Takahashi Y

4

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4 July 2017

Hirano A

5

1 reference

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4 July 2017

Kondo T

6

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4 July 2017

Yamaguchi S

7

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4 July 2017

Aoyama T

8

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4 July 2017

Kondo N

9

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4 July 2017

language of work or name

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publication date

1 February 2001

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4 July 2017

Pediatric Research

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4 July 2017

49

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4 July 2017

2

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Europe PubMed Central

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4 July 2017

227-231

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4 July 2017

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200102000-00016

21 January 2018

Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria.

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200102000-00016

21 January 2018

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200102000-00016

21 January 2018

Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200102000-00016

21 January 2018

Genomic DNA organization of human mitochondrial very-long-chain acyl-CoA dehydrogenase and mutation analysis

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200102000-00016

21 January 2018

Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200102000-00016

21 January 2018

Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200102000-00016

21 January 2018

Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200102000-00016

21 January 2018

Efficient selection for high-expression transfectants with a novel eukaryotic vector

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200102000-00016

21 January 2018

Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency.

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200102000-00016

21 January 2018

Identifiers

10.1203/00006450-200102000-00016

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

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