Genotype–phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-009-9041-6
Reference19 articles.
1. Andresen BS, Bross P, Vianey-Saban C et al (1996) Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the geen and identification in four patients of 9 different mutations within this gene. Hum Mol Genet 5:461–472
2. Andresen BS, Olpin S, Poorthuis BJHM et al (1999) Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 64:479–494
3. Bertrand C, Largilliere C, Zabot MT, Mathieu M, Vianey-Saban C (1993) Very-long-chain acyl-CoA dehydrogenase deficiency: identification of new inborn error of mitochondrial fatty acid oxidation in fibroblasts. Biochim Biophys Acta 1180:327–329
4. Boles RG, Buck EA, Blitzer MG et al (1998) Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life. J Pediatr 132:924–933
5. Boneh A, Andresen BS, Gregersen N et al (2006) VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Mol Genet Metab 88:166–170
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