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Ornithine transcarbamylase variant in a male patient

  • Case Report
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Journal of Inherited Metabolic Disease

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References

  • Bachmann, C. and Colombo, J. P. Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.Eur. J. Pediatr. 134 (1980) 109–113

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  • Gitzelmann, R. Enzymes of fructose and galactose metabolism, galactose-1-phosphate. In Curtius, H. Ch. and Roth, M. (eds.),Clinical Biochemistry, Principles and Methods, Vol. 2, W. de Greuter, 1978, pp. 1236–1240

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Stöckler, S., Großschädl, F., Bachmann, C. et al. Ornithine transcarbamylase variant in a male patient. J Inherit Metab Dis 10, 272 (1987). https://doi.org/10.1007/BF01800077

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  • DOI: https://doi.org/10.1007/BF01800077

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