(Q51562296)

7 April 2018

title

Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype. (English)

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7 April 2018

very long chain acyl-CoA dehydrogenase deficiency

main subject

0 references

author

Brage Storstein Andresen

6

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7 April 2018

author name string

Scholte HR

1

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7 April 2018

Van Coster RN

2

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7 April 2018

de Jonge PC

3

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7 April 2018

Poorthuis BJ

4

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7 April 2018

Jeneson JA

5

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7 April 2018

Gregersen N

7

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7 April 2018

de Klerk JB

8

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7 April 2018

Busch HF

9

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7 April 2018

publication date

1 July 1999

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7 April 2018

published in

Neuromuscular Disorders

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7 April 2018

volume

9

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7 April 2018

page(s)

313-319

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7 April 2018

issue

5

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7 April 2018

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

cites work

1 reference

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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

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

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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

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

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 presenting with exercise-induced myoglobinuria.

1 reference

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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-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria

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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

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.

1 reference

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7 January 2021

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

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7 January 2021

Riboflavin-responsive complex I deficiency

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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

Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts

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7 January 2021

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

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7 January 2021

Differential diagnosis of hydroxydicarboxylic aciduria based on release of3H2O from [9,10‐3H]myristic and [9,10‐3H]palmitic acids by intact cultured fibroblasts

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7 January 2021

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

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7 January 2021

Experimental design of 31P MRS assessment of human forearm muscle function: restrictions imposed by functional anatomy

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7 January 2021

A linear model of muscle respiration explains monoexponential phosphocreatine changes

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7 January 2021

Control of oxidative metabolism and oxygen delivery in human skeletal muscle: a steady-state analysis of the work/energy cost transfer function

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7 January 2021

The quantitatively minor role of carbohydrate in oxidative metabolism by skeletal muscle in intact man in the basal state; measurements of oxygen and glucose uptake and carbon dioxide and lactate production in the forearm

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7 January 2021

The regulation of the intracellular pH in cells from vertebrates

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7 January 2021

Expression and function of bicarbonate/chloride exchangers in the preimplantation mouse embryo

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7 January 2021

Cellular energetics of dystrophic muscle

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7 January 2021

Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase

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7 January 2021

10.1016/S0960-8966(99)00032-2

Identifiers

DOI

1 reference

7 April 2018

PubMed ID

10407852

1 reference

7 April 2018