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Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Hauser ER, Finkelstein JE, Valle D, Brusilow SW (1990) Allopurinol-induced orotidinuria: a test for mutations at the ornithine carbamoyltransferase locus in women. N Engl J Med 322: 1641–1645.

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  • Vella S, Steiner S, Schlumbom V, et al (1997) Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity. J Inher Metah Dis 20: 517–524.

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Authors
  1. M. Staudt
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  2. B. Wermuth
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  3. P. Freisinger
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  4. A. Hässler
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  5. B. F. Pontz
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Staudt, M., Wermuth, B., Freisinger, P. et al. Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity. J Inherit Metab Dis 21, 71–72 (1998). https://doi.org/10.1023/A:1005315531630

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  • DOI: https://doi.org/10.1023/A:1005315531630

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