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5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia

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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.

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  • Larsson A, Mattson B, Wauters et al (1981) 5-Oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers — a new inborn error of the gamma-glutamyl cycle.Acta Paediatr Scand 70: 301–307.

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  • 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: 89–92.

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Authors and Affiliations

  1. Department of General Pediatrics, University Children's Hospital, Im Neuenheimer Feld 150, D-69120, Heidelberg, Germany

    E. Mayatepek, G. F. Hoffmann & H. J. Bremer

  2. Institute of Biochemistry II, Im Neuenheimer Feld 328, D-69120, Heidelberg, Germany

    K. Becker

  3. Department of Pediatrics, Karolinska Institute, Huddinge University Hospital, S-141 86, Huddinge, Sweden

    A. Larsson

Authors
  1. E. Mayatepek
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  2. G. F. Hoffmann
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  3. A. Larsson
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  4. K. Becker
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  5. H. J. Bremer
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Mayatepek, E., Hoffmann, G.F., Larsson, A. et al. 5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia. J Inherit Metab Dis 18, 83–84 (1995). https://doi.org/10.1007/BF00711382

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  • DOI: https://doi.org/10.1007/BF00711382

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