Literature DB >> 31983732

Very long-chain acyl-CoA dehydrogenase deficiency nomenclature: compound heterozygosity.

Carly M Senefeld1, Jonathon W Senefeld2.   

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Year:  2020        PMID： 31983732     DOI： 10.1038/s10038-020-0727-9

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


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  5 in total

Review 1.  Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.

Authors:  Kenji Yamada; Takeshi Taketani
Journal:  J Hum Genet       Date:  2018-11-06       Impact factor: 3.172

2.  Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.

Authors:  Eric S Goetzman; Yudong Wang; Miao He; Al-Walid Mohsen; Brittani K Ninness; Jerry Vockley
Journal:  Mol Genet Metab       Date:  2007-03-19       Impact factor: 4.797

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

Authors:  B S Andresen; S Olpin; B J Poorthuis; H R Scholte; C Vianey-Saban; R Wanders; L Ijlst; A Morris; M Pourfarzam; K Bartlett; E R Baumgartner; J B deKlerk; L D Schroeder; T J Corydon; H Lund; V Winter; P Bross; L Bolund; N Gregersen
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

4.  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.

Authors:  B S Andresen; P Bross; C Vianey-Saban; P Divry; M T Zabot; C R Roe; M A Nada; A Byskov; T A Kruse; S Neve; K Kristiansen; I Knudsen; M J Corydon; N Gregersen
Journal:  Hum Mol Genet       Date:  1996-04       Impact factor: 6.150

5.  VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.

Authors:  A Boneh; B S Andresen; N Gregersen; M Ibrahim; N Tzanakos; H Peters; J Yaplito-Lee; J J Pitt
Journal:  Mol Genet Metab       Date:  2006-02-20       Impact factor: 4.797
  5 in total

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