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Deficiency of 5-oxoprolinase in an 8-year-old with developmental delay

  • Case Report
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Journal of Inherited Metabolic Disease

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References

  • Henderson MJ, Larsson A, Carlsson B, Dear PRF (1993) 5-Oxoprolinuria associated with 5-oxoprolinase deficiency; further evidence that this is a benign disorder.J Inher Metab Dis 16: 1051–1052.

    Google Scholar 

  • Larsson A, Mattsson B, Wauters EAK, Van Gool JD, Duran M, Wadman SK (1981) 5-Oxoprolinuria due to hereditary deficiency in two brothers — a new inborn error of the γ-glutamyl cycle.Acta Paediatr Scand 70: 301–308.

    Google Scholar 

  • Mayatepek E, Hoffman GF, Larsson A, Becker K, Bremer HJ (1995) 5-Oxoprolinase deficiency with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia.J Inher Metab Dis 18: 83–84.

    Google Scholar 

  • Roesel RA, Hommes FA, Samper L (1981) Pyroglutamic aciduria (5-oxoprolinuria) without glutathione synthetase deficiency and with decreased pyroglutamate hydrolase activity.J Inher Metab Dis 4: 89–90.

    Google Scholar 

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Authors and Affiliations

  1. Department of Medical Genetics, Alberta Children's Hospital, 1820 Richmond Rd SW, T2T 5C7, Calgary, AB, Canada

    F. P. Bernier, F. F. Snyder & D. R. McLeod

  2. Department of Medical Biochemistry, University of Calgary and Alberta Children's Hospital, Canada

    F. F. Snyder

Authors
  1. F. P. Bernier
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  2. F. F. Snyder
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  3. D. R. McLeod
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Bernier, F.P., Snyder, F.F. & McLeod, D.R. Deficiency of 5-oxoprolinase in an 8-year-old with developmental delay. J Inherit Metab Dis 19, 367–368 (1996). https://doi.org/10.1007/BF01799269

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  • DOI: https://doi.org/10.1007/BF01799269

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