(Q46952085)

26 December 2017

title

VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis (English)

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26 December 2017

very long chain acyl-CoA dehydrogenase deficiency

main subject

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author

Brage Storstein Andresen

2

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author name string

Boneh A

1

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Gregersen N

3

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Ibrahim M

4

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Tzanakos N

5

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Peters H

6

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Yaplito-Lee J

7

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Pitt JJ

8

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publication date

20 February 2006

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Molecular Genetics and Metabolism

published in

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26 December 2017

volume

88

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issue

2

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26 December 2017

page(s)

166-170

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26 December 2017

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

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.012

MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.012

Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.012

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.012

Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.012

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.012

Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.012

10.1016/J.YMGME.2005.12.012

7 January 2021

Identifiers

DOI

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26 December 2017

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26 December 2017