Literature DB >> 8929741

The frequency of medium-chain acyl-CoA dehydrogenase G985 mutation in the Hungarian population.

C Szalai, A Czinner, K Revai.   

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Year:  1996        PMID： 8929741     DOI： 10.1007/bf01953952

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  5 in total

1.  Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  Y Matsubara; K Narisawa; S Miyabayashi; K Tada; P M Coates
Journal:  Lancet       Date:  1990-06-30       Impact factor: 79.321

2.  The frequency of MCAD mutation (K329E) in the Finnish population.

Authors:  E I Schwartz; J Ilonen; N A Skobeleva; H K Akerblom
Journal:  Eur J Pediatr       Date:  1995-06       Impact factor: 3.183

3.  Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards.

Authors:  Y Matsubara; K Narisawa; K Tada; H Ikeda; Y Q Yao; D M Danks; A Green; E R McCabe
Journal:  Lancet       Date:  1991-08-31       Impact factor: 79.321

4.  Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.

Authors:  N Gregersen; A I Blakemore; V Winter; B Andresen; S Kølvraa; L Bolund; D Curtis; P C Engel
Journal:  Clin Chim Acta       Date:  1991-11-09       Impact factor: 3.786

5.  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe.

Authors:  N Gregersen; V Winter; D Curtis; T Deufel; M Mack; J Hendrickx; P J Willems; A Ponzone; T Parrella; R Ponzone
Journal:  Hum Hered       Date:  1993 Nov-Dec       Impact factor: 0.444
  5 in total
  1 in total

1.  Genetic variants of the interleukin-18 promoter region (-607) influence the course of necrotising enterocolitis in very low birth weight neonates.

Authors:  Erika Héninger; András Treszl; István Kocsis; Beáta Dérfalvi; Tivadar Tulassay; Barna Vásárhelyi
Journal:  Eur J Pediatr       Date:  2002-07       Impact factor: 3.183
  1 in total

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