Literature DB >> 8786085

Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France.

B Fromenty1, A Mansouri, J P Bonnefont, F Courtois, A Munnich, D Rabier.   

Abstract

DNA from 414 French blood donors from the Paris area was assessed for the A985G mutation responsible for most cases of autosomal recessive medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. The mutant gene frequency averaged 1/140, predicting a frequency of mutant homozygotes of 1/19 000. Discrepancy between the numbers of expected (42 per year) and recorded cases of MCAD (6 per year) suggests that most MCAD-deficient patients escape detection in France.

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Year:  1996        PMID： 8786085     DOI： 10.1007/bf02185775

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  12 in total

1.  Localisation of RFLPs of the medium chain acyl-CoA dehydrogenase gene.

Authors:  A I Blakemore; S Kolvraa; N Gregersen; P C Engel; D Curtis
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132

2.  Frequency of the G985 MCAD mutation in the general population.

Authors:  A I Blakemore; H Singleton; R J Pollitt; P C Engel; S Kolvraa; N Gregersen; D Curtis
Journal:  Lancet       Date:  1991-02-02       Impact factor: 79.321

3.  Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.

Authors:  I Yokota; P M Coates; D E Hale; P Rinaldo; K Tanaka
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

4.  Is genotyping useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France?

Authors:  C Ged; H el Sebai; H de Verneuil; F Parrot-Rouleau
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

5.  Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  D P Kelly; A J Whelan; M L Ogden; R Alpers; Z F Zhang; G Bellus; N Gregersen; L Dorland; A W Strauss
Journal:  Proc Natl Acad Sci U S A       Date:  1990-12       Impact factor: 11.205

6.  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

7.  The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome.

Authors:  J B Lundemose; N Gregersen; S Kølvraa; B Nørgaard Pedersen; M Gregersen; K Helweg-Larsen; J Simonsen
Journal:  Acta Paediatr       Date:  1993 Jun-Jul       Impact factor: 2.299

8.  Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS).

Authors:  M Dundar; W G Lanyon; J M Connor
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 9.  Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.

Authors:  K Tanaka; I Yokota; P M Coates; A W Strauss; D P Kelly; Z Zhang; N Gregersen; B S Andresen; Y Matsubara; D Curtis
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878

10.  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
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  4 in total

1.  Escherichia coli exonuclease III enhances long PCR amplification of damaged DNA templates.

Authors:  B Fromenty; C Demeilliers; A Mansouri; D Pessayre
Journal:  Nucleic Acids Res       Date:  2000-06-01       Impact factor: 16.971

2.  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

3.  Adult presentation of MCAD deficiency revealed by coma and severe arrythmias.

Authors:  F Feillet; G Steinmann; C Vianey-Saban; C de Chillou; N Sadoul; E Lefebvre; M Vidailhet; P E Bollaert
Journal:  Intensive Care Med       Date:  2003-08-01       Impact factor: 17.440

4.  Transcriptome analysis suggests a compensatory role of the cofactors coenzyme A and NAD+ in medium-chain acyl-CoA dehydrogenase knockout mice.

Authors:  Anne-Claire M F Martines; Albert Gerding; Sarah Stolle; Marcel A Vieira-Lara; Justina C Wolters; Angelika Jurdzinski; Laura Bongiovanni; Alain de Bruin; Pieter van der Vlies; Gerben van der Vries; Vincent W Bloks; Terry G J Derks; Dirk-Jan Reijngoud; Barbara M Bakker
Journal:  Sci Rep       Date:  2019-10-10       Impact factor: 4.379
  4 in total

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