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Early cirrhosis in a patient with type I citrullinaemia (CTLN1)

  • Published:
Journal of Inherited Metabolic Disease

Abstract

Summary: A 17-month-old girl with type I classical citrullinaemia (CTLN1) presenting with early cirrhosis and unusual ultrastructural features of the liver is reported. The patient is homozygous for a splicing mutation in intron 15 of the argininosuccinate synthase gene.

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REFERENCES

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Authors and Affiliations

  1. Department of Pediatric Pathology, Hacettepe University Faculty of Medicine, Ankara, Turkey

    Ş. Güçer

  2. Department of Histology and Embryology, Hacettepe University Faculty of Medicine, Ankara, Turkey

    E. Aşan & P. Atilla

  3. Department of Pediatric Nutrition and Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey

    A. Tokatl

  4. Department of Pediatric Pathology, Hacettepe University Faculty of Medicine, Ankara, Turkey

    M. Çağlar

Authors
  1. Ş. Güçer
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  2. E. Aşan
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  3. P. Atilla
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  4. A. Tokatl
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  5. M. Çağlar
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Güçer, Ş., Aşan, E., Atilla, P. et al. Early cirrhosis in a patient with type I citrullinaemia (CTLN1). J Inherit Metab Dis 27, 541–542 (2004). https://doi.org/10.1023/B:BOLI.0000037401.63596.de

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  • DOI: https://doi.org/10.1023/B:BOLI.0000037401.63596.de

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