Literature DB >> 7633427

Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12.

A A Morris1, R W Taylor, R N Lightowlers, A Aynsley-Green, K Bartlett, D M Turnbull.   

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Year:  1995        PMID： 7633427     DOI： 10.1093/hmg/4.4.747

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  3 in total

1.  A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing.

Authors:  Claire Searle; Brage Storstein Andresen; Ed Wraith; Jamie Higgs; Deborah Gray; Alison Mills; K Elizabeth Allen; Emma Hobson
Journal:  JIMD Rep       Date:  2013-04-02

2.  Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.

Authors:  B Küchler; A G Abdel-Ghany; P Bross; A Nandy; I Rasched; S Ghisla
Journal:  Biochem J       Date:  1999-01-15       Impact factor: 3.857

3.  Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.

Authors:  Juliet Oerton; Javaria M Khalid; Guy Besley; R Neil Dalton; Melanie Downing; Anne Green; Mick Henderson; Steve Krywawych; James Leonard; Brage S Andresen; Carol Dezateux
Journal:  J Med Screen       Date:  2011-12-13       Impact factor: 2.136
  3 in total

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