Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency. (Q51560495)

7 April 2018

title

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

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very long chain acyl-CoA dehydrogenase deficiency

main subject

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B Merinero

1

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S I Pascual Pascual

2

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C Pérez-Cerdá

3

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J Gangoiti

4

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M Castro

5

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M J Garcia

6

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I Pascual Castroviejo

7

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C Vianey-Saban

8

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B Andresen

9

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N Gregersen

10

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M Ugarte

11

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publication date

1 October 1999

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Journal of Inherited Metabolic Disease

published in

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volume

22

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issue

7

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page(s)

802-810

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

cites work

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12 December 2020

An improved and simplified radioisotopic assay for the determination of free and esterified carnitine

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A rapid procedure for extracting genomic DNA from leukocytes

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

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Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations

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Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect

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

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12 December 2020

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

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12 December 2020

Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography

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12 December 2020

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

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12 December 2020

Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients

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12 December 2020

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

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12 December 2020

Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency

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12 December 2020

Parameters affecting the yield of DNA from human blood

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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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12 December 2020

Identifiers

DOI

10.1023/A:1005553907216

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7 April 2018

Dimensions Publication ID

1001043844

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7 April 2018