Clinical and molecular heterogeneity in very–long-chain acyl-coenzyme a dehydrogenase deficiency (Q60232636)

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5 November 2019

title

Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency (English)

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5 November 2019

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4

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5 November 2019

Eleonora Lamantea

5

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5 November 2019

Barbara Garavaglia

6

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5 November 2019

Franco Taroni

7

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5 November 2019

author name string

R Pons

1

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5 November 2019

P Cavadini

2

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5 November 2019

S Baratta

3

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5 November 2019

publication date

1 February 2000

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5 November 2019

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5 November 2019

volume

22

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5 November 2019

issue

2

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5 November 2019

page(s)

98-105

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beta-oxidation of fatty acids in mitochondria, peroxisomes, and bacteria: a century of continued progress

5 November 2019

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Disorders of mitochondrial long-chain fatty acid oxidation

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

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7 January 2021

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

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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

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7 January 2021

Assignment of the human mitochondrial very-long-chain acyl-CoA dehydrogenase gene (LCACD) to 17p13 by in situ hybridization

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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

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

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7 January 2021

Prenatal diagnosis of mitochondrial fatty acid oxidation defects

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7 January 2021

Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency

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7 January 2021

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

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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

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7 January 2021

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

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7 January 2021

Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset

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7 January 2021

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

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7 January 2021

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

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Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death

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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

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7 January 2021

Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: use of stress and fat-loading tests.

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7 January 2021

Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency

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7 January 2021

Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria

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7 January 2021

Complementation analysis of fatty acid oxidation disorders

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7 January 2021

Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liver

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7 January 2021

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

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7 January 2021

Defect in fatty acid oxidation: laboratory and pathologic findings in a patient

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Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.

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7 January 2021

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

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7 January 2021

Detection and assessment by positron emission tomography of a genetically determined defect in myocardial fatty acid utilization (long-chain acyl-CoA dehydrogenase deficiency)

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7 January 2021

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

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7 January 2021

Inhibitory effect of 3-hydroxyacyl-CoAs and other long-chain fatty acidβ-oxidation intermediates on mitochondrial oxidative phosphorylation

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7 January 2021

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7 January 2021

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Identifiers

DOI

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5 November 2019

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