Literature DB >> 7815879

Regional variations in medium-chain acyl-CoA dehydrogenase deficiency.

H R Seddon, A Green, R G Gray, J V Leonard, R J Pollitt.   

Abstract

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Year:  1995        PMID： 7815879     DOI： 10.1016/s0140-6736(95)90105-1

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  12 in total

Review 1.  Population newborn screening for inherited metabolic disease: current UK perspectives.

Authors:  A Green; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

Review 2.  Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

Authors:  T F Lang
Journal:  J Inherit Metab Dis       Date:  2009-10-11       Impact factor: 4.982

3.  Mitochondrial DNA mutations and pathogenicity.

Authors:  P F Chinnery; D M Turnbull; N Howell; R M Andrews
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

4.  Autoclaving Guthrie cards does not prevent their use in PCR reactions!

Authors:  R G Gray; S K Hall
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

Review 5.  L-Carnitine.

Authors:  J H Walter
Journal:  Arch Dis Child       Date:  1996-06       Impact factor: 3.791

6.  Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis.

Authors:  C J Wilson; M P Champion; J E Collins; P T Clayton; J V Leonard
Journal:  Arch Dis Child       Date:  1999-05       Impact factor: 3.791

7.  Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.

Authors:  R J Pollitt; J V Leonard
Journal:  Arch Dis Child       Date:  1998-08       Impact factor: 3.791

8.  Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.

Authors:  P T Clayton; M Doig; S Ghafari; C Meaney; C Taylor; J V Leonard; M Morris; A W Johnson
Journal:  Arch Dis Child       Date:  1998-08       Impact factor: 3.791

9.  A comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK.

Authors:  A C Hutchesson; S Bundey; M A Preece; S K Hall; A Green
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

10.  The A985G mutation in the medium-chain acyl-CoA dehydrogenase gene: high prevalence in the Swiss population resident in Geneva.

Authors:  B Conne; R Zufferey; D Belin
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982
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