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Antenatal diagnosis of propionic acidaemia by methylcitrate determination

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Journal of Inherited Metabolic Disease

Abstract

Antenatal diagnosis of a case of propionic acidaemia was rapidly achieved by measuring the methylcitrate concentration in amniotic fluid.

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References

  • Buchanan, P. D., Kahler, S. G., Sweetman, L. and Nyhan, W. L. Pitfalls in the prenatal diagnosis of propionic acidemia.Clin. Genet. 18 (1980) 177

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  • Naylor, G., Sweetman, L., Nyhan, W. L., Hornbeck, C., Griffiths, J., Morch, L. and Brandange, S. Isotope dilution analysis of methylcitric acid in amniotic fluid for prenatal diagnosis of propionic and methylmalonic acidemia. (In preparation)

  • Sweetman, L., Weyler, W., Shafai, T., Young, P. E. and Nyhan, W. L. Prenatal diagnosis of propionic acidemia.J. Am. Med. Assoc. 242 (1979) 1048–1052

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Authors and Affiliations

  1. Service de Génétique et Maladies Héréditaires du Métabolisme, CHU, Place de Verdun, 59000, Lille, France

    J. L. Dhondt, J. P. Farriaux, O. Amedee Manesme & B. Cartigny

  2. Department of Pediatries, University of California, 92093, La Jolla, CA, USA

    L. Sweetman

  3. Wilhelmina Kinderziekenhuis, Nieuwe Gracht 137, Utrecht, The Netherlands

    M. Duran

Authors
  1. J. L. Dhondt
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  2. J. P. Farriaux
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  3. O. Amedee Manesme
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  4. B. Cartigny
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  5. L. Sweetman
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  6. M. Duran
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Dhondt, J.L., Farriaux, J.P., Amedee Manesme, O. et al. Antenatal diagnosis of propionic acidaemia by methylcitrate determination. J Inherit Metab Dis 4, 49–50 (1981). https://doi.org/10.1007/BF02263585

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  • DOI: https://doi.org/10.1007/BF02263585

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