(Q42544580)

English

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

scientific article published on January 1998

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scholarly article

1 reference

Europe PubMed Central

2 November 2017

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

1 reference

Europe PubMed Central

2 November 2017

author name string

Vianey-Saban C

1

1 reference

Europe PubMed Central

2 November 2017

Divry P

2

1 reference

Europe PubMed Central

2 November 2017

Brivet M

3

1 reference

Europe PubMed Central

2 November 2017

Nada M

4

1 reference

Europe PubMed Central

2 November 2017

Zabot MT

5

1 reference

Europe PubMed Central

2 November 2017

Mathieu M

6

1 reference

Europe PubMed Central

2 November 2017

Roe C

7

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Europe PubMed Central

2 November 2017

publication date

1 January 1998

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Europe PubMed Central

2 November 2017

Clinica Chimica Acta

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Europe PubMed Central

2 November 2017

269

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Europe PubMed Central

2 November 2017

43-62

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Europe PubMed Central

2 November 2017

1

1 reference

Europe PubMed Central

2 November 2017

Beta oxidation of fatty acids

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900185-X

7 January 2021

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/10.1016%2FS0009-8981%2897%2900185-X

7 January 2021

Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900185-X

7 January 2021

A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase

1 reference

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7 January 2021

Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency

1 reference

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7 January 2021

Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia

1 reference

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7 January 2021

Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts

1 reference

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7 January 2021

Purification of electron transfer flavoprotein from pig liver mitochondria and its application to the diagnosis of deficiencies of acyl-CoA dehydrogenases in human fibroblasts

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry

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7 January 2021

Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy

1 reference

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7 January 2021

Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

1 reference

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7 January 2021

Mitochondrial very long chain acyl-CoA dehydrogenase deficiency--a new disorder of fatty acid oxidation

1 reference

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7 January 2021

Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course

1 reference

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7 January 2021

Prenatal diagnosis of mitochondrial fatty acid oxidation defects

1 reference

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7 January 2021

Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: evolution after prenatal diagnosis and prompt management

1 reference

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7 January 2021

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

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7 January 2021

Isolation of the human peroxisomal acyl-CoA oxidase gene: organization, promoter analysis, and chromosomal localization

1 reference

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7 January 2021

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

1 reference

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7 January 2021

An acyl-coenzyme A dehydrogenase assay utilizing the ferricenium ion

1 reference

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7 January 2021

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

1 reference

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7 January 2021

The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency

1 reference

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7 January 2021

Identifiers

10.1016/S0009-8981(97)00185-X

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Europe PubMed Central

2 November 2017

release_dmdx7z6gpzcnjekuwrdlpdg3ri

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https://api.fatcat.wiki/v0/release/dmdx7z6gpzcnjekuwrdlpdg3ri

24 November 2022

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Europe PubMed Central

2 November 2017

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