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N-acetylglutamate synthetase deficiency, a second patient

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Journal of Inherited Metabolic Disease

Summary

A second patient withN-acetylglutamate synthetase deficiency is described. The first symptoms were noted at 6 days of age. The course was lethal despite vigorous treatment. The diagnosis was established after death.

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References

  • Bachmann, C., Krähenbühl, S., Colombo, J. P., Schubiger, G., Jaggi, K. H. and Toenz, O.N-Acetylglutamate synthetase deficiency: a disorder of ammonia detoxication.N. Engl. J. Med. 304 (1981) 543

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Authors and Affiliations

  1. Department of Clinical Chemistry, Inselspital University of Berne, CH-3010, Berne, Switzerland

    C. Bachmann & J. P. Colombo

  2. Department of Pediatrics, Philipps-University, Marburg, FRG

    M. Brandis, E. Weissenbarth-Riedel & R. Burghard

Authors
  1. C. Bachmann
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  2. M. Brandis
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  3. E. Weissenbarth-Riedel
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  4. R. Burghard
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  5. J. P. Colombo
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Bachmann, C., Brandis, M., Weissenbarth-Riedel, E. et al. N-acetylglutamate synthetase deficiency, a second patient. J Inherit Metab Dis 11, 191–193 (1988). https://doi.org/10.1007/BF01799871

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  • DOI: https://doi.org/10.1007/BF01799871

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