Skip to main content
Log in

DNA-based prenatal diagnosis for very-long- chain acyl-CoA dehydrogenase deficiency

  • Published:
Journal of Inherited Metabolic Disease

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

REFERENCES

  • Andresen BS, Knudsen I, Jensen PKA, Rasmussen K, Gregersen N (1992) Two novel nonradioactive PCR-based assays in which dried blood spots, genomic DNA or whole cells are used for fast and reliable detection of the Z and S mutations in the gene for a-1-antitrypsin. Clin Chem 38: 2100–2107.

    Google Scholar 

  • Andresen BS, Bross P, Vianey-Saban C, et al (1996a) Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identi-cation in four patients of 9 different mutations within this gene. Hum Mol Genet 5: 461–472.

    Google Scholar 

  • Andresen BS, Vianey-Saban C, Bross P, et al (1996b) The mutational spectrum in very-longchain acyl-CoA dehydrogenase (VLCAD) deficiency. J Inher Metab Dis19: 169–172.

    Google Scholar 

  • 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: (in press).

  • Brown-Harrison MC, Nada MA, Sprecher H, et al (1996) Very-long-chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy. Biochem Mol Med 58: 59–65.

    Google Scholar 

  • Gregersen N, Winter V, Jensen PKA, et al (1995) Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a fatal case of sudden unexpected death in childhood. Prenat Diagn 15: 82–86.

    Google Scholar 

  • Nada MA, Vianey-Saban, Roe CR, et al (1996) Prenatal diagnosis of mitochondrial fatty acid oxidation defects. Prenat Diagn 16: 117–124.

    Google Scholar 

  • Olpin SE, Manning NJ, Pollitt RJ, Clark S (1997) Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-acid. J Inher Metab Dis 20: 415–419.

    Google Scholar 

  • Sluysmans T, Tuerlinckx D, Hubinont C, Verellen-Dumoulin C, Brivet M, Vianey-Saban C (1997) Very long-chain acyl-CoA dehydrogenase de-ciency in two siblings: Evolution after prenatal diagnosis and prompt management. J Pediatr 131: 444–446.

    Google Scholar 

  • Vianey-Saban C, Divry P, Brivet M, et al (1998) Mitochondrial long-chain acyl-CoA dehydrogenase de-ciency: clinical characteristics and diagnostic considerations in 30 patients. Clin Chim Acta 269: 43–62. J. Inher. Metab. Dis. 22 (1999)

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Andresen, B.S., Olpin, S., Kvittingen, E.A. et al. DNA-based prenatal diagnosis for very-long- chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 22, 281–285 (1999). https://doi.org/10.1023/A:1005558828223

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1005558828223

Keywords

Navigation