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

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Andresen BS, Bross P, Jensen TG, et al (1993) 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). Am J Hum Genet 53: 730-739.

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  • Chace DH, Hillman SL, Van Hove JL, Naylor EW (1997) Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. Clin Chem 43: 2106-2613.

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  • Wang SS, Fernhoff PM, Khoury MJ (2000) Is the G985A allelic variant of medium-chain acyl-CoA dehydrogenase a risk factor for sudden infant death syndrome? A pooled analysis. Pediatrics 105: 1175-1176.

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Authors and Affiliations

  1. Division of Genetics, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts

    S. Albers, H. L. Levy, M. Irons & D. Marsden

  2. Department of Pediatrics, Vanderbilt University, Nashville, Tennessee

    A. W. Strauss

  3. New England Newborn Screening Program and the University of Massachusetts Medical School, Boston, Massachusetts, USA

    D. Marsden

Authors
  1. S. Albers
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  2. H. L. Levy
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  3. M. Irons
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  4. A. W. Strauss
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  5. D. Marsden
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Albers, S., Levy, H.L., Irons, M. et al. Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 24, 417–418 (2001). https://doi.org/10.1023/A:1010533408635

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  • DOI: https://doi.org/10.1023/A:1010533408635

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