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A defect of the urea cycle — a case report

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Summary

A family is described in which 2 male infants died in the neonatal period. The second infant was found to have a defect of the urea cycle. The diagnosis, treatment and implications for the family are discussed.

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Authors and Affiliations

  1. The Children’s Hospital, Temple Street, Dublin 1

    E. R. Natighten, M. P. Flavin & N. G. O’Brien

  2. The National Maternity Hospital, Holies Street, Dublin 2

    E. R. Natighten, M. P. Flavin & N. G. O’Brien

Authors
  1. E. R. Natighten
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  2. M. P. Flavin
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  3. N. G. O’Brien
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Additional information

We thank the staff of the National Maternity Hospital and, Temple Street Childreh’s Hospital Intensive Care U’nits. Dr. S. Cahalane and the laboratory staff at Temple Street Children’s Hospital provided the excellent laboratory services.

We acknowledge and thank Dr. V. Oberholzer, Queen Elizabeth Hospital, Hackney, London and Professor D. Patrick Institute of Child Health, London for orotic acid estimation and enzyme analysis.

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Natighten, E.R., Flavin, M.P. & O’Brien, N.G. A defect of the urea cycle — a case report. I.J.M.S. 153, 439–440 (1984). https://doi.org/10.1007/BF02939836

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  • DOI: https://doi.org/10.1007/BF02939836

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