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Maple syrup urine disease: Rapid prenatal diagnosis by enzyme assay

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References

  • Dancis, J.: Maple syrup urine disease. In: Antenatal diagnosis, A. Dorfman, (Ed.), pp 123–125. Chicago-London: The University of Chicago Press 1972.

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  • Wendel, U., Wöhler, W., Goedde, H. W., Langenbeck, U., Passarge, E., Rüdiger, H. W.: Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by microenzyme assay in leukocytes and fibroblasts. Clin. chim. Acta (in press).

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Authors and Affiliations

  1. Institut für Humangenetik, Universität Hamburg, Germany

    U. Wendel, H. W. Rüdiger & E. Passarge

  2. John F. Kennedy Instituttet, Glostrup, Denmark

    Margareta Mikkelsen

Authors
  1. U. Wendel
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  2. H. W. Rüdiger
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  3. E. Passarge
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  4. Margareta Mikkelsen
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Additional information

This work was supported by the Deutsche Forschungsgemeinschaft and by a grant from Statens Laegevidenskabelige Forskningsfond and a grant from the Research Committee of the Danish Mental Retardation Service. Drs. Schuchmann, Mros, Jonatha, and Knörr of Freiburg and Ulm provided us with samples of amniotic fluid, and with fetal tissues after they terminated the pregnancy.

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Wendel, U., Rüdiger, H.W., Passarge, E. et al. Maple syrup urine disease: Rapid prenatal diagnosis by enzyme assay. Hum Genet 19, 127–128 (1973). https://doi.org/10.1007/BF00295241

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  • DOI: https://doi.org/10.1007/BF00295241

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