Literature DB >> 11486912

Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.

S Albers1, H L Levy, M Irons, A W Strauss, D Marsden.   

Abstract

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Year:  2001        PMID： 11486912     DOI： 10.1023/a:1010533408635

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  Is the G985A allelic variant of medium-chain acyl-CoA dehydrogenase a risk factor for sudden infant death syndrome? A pooled analysis.

Authors:  S S Wang; P M Fernhoff; M J Khoury
Journal:  Pediatrics       Date:  2000-05       Impact factor: 7.124

2.  A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).

Authors:  B S Andresen; P Bross; T G Jensen; V Winter; I Knudsen; S Kølvraa; U B Jensen; L Bolund; M Duran; J J Kim
Journal:  Am J Hum Genet       Date:  1993-09       Impact factor: 11.025

3.  Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry.

Authors:  D H Chace; S L Hillman; J L Van Hove; E W Naylor
Journal:  Clin Chem       Date:  1997-11       Impact factor: 8.327
  3 in total
  1 in total

1.  A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.

Authors:  Anne-Frédérique Dessein; Monique Fontaine; Brage S Andresen; Niels Gregersen; Michèle Brivet; Daniel Rabier; Silvia Napuri-Gouel; Dries Dobbelaere; Karine Mention-Mulliez; Annie Martin-Ponthieu; Gilbert Briand; David S Millington; Christine Vianey-Saban; Ronald J A Wanders; Joseph Vamecq
Journal:  Orphanet J Rare Dis       Date:  2010-10-05       Impact factor: 4.123
  1 in total

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