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An Improved Screening Method for Inherited Disorders of Purine and Pyrimidine Metabolism by HPLC

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Part of the Advances in Experimental Medicine and Biology book series (AEMB,volume 309B)

Abstract

HPLC has been used extensively in the identification of genetic disorders of purine and pyrimidine metabolism. Some of the problems which may be encountered in assessing patients, for example on high caffeine intakes, or antibiotics such as septrin, have been reported (1). The spectrum of clinical presentation is broad, ranging from cerebral palsy, immunodeficiency, anaemia, acute renal failure to kidney stones. This means that many patients can be on multiple-drug regimes, which may include purine or pyrimidine analogues, or have recently undergone some clinical manipulation which could severely restrict the chance of making a diagnosis by direct analysis of body fluids. This paper reports an improved method of screening involving better fractionation of the urine and demonstrates how some of the above problems have been overcome.

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  • DOI: 10.1007/978-1-4615-7703-4_2
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References

  1. Morris, G.S., Simmonds, H.A., and Davies, P.M., 1986. Use of Biological Fluids for the Rapid Diagnosis of Potentially Lethal Inherited Disorders of Human Purine and Pyrimidine Metabolism. Biomed.Chrom. 13: 109.

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  2. Simmonds, H.A., 1969. Clin.Chim.Acta. 23: 319.

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© 1991 Plenum Press, New York

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Davies, P.M., McBride, M.B., Simmonds, H.A. (1991). An Improved Screening Method for Inherited Disorders of Purine and Pyrimidine Metabolism by HPLC. In: Harkness, R.A., Elion, G.B., Zöllner, N. (eds) Purine and Pyrimidine Metabolism in Man VII. Advances in Experimental Medicine and Biology, vol 309B. Springer, New York, NY. https://doi.org/10.1007/978-1-4615-7703-4_2

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  • DOI: https://doi.org/10.1007/978-1-4615-7703-4_2

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4615-7705-8

  • Online ISBN: 978-1-4615-7703-4

  • eBook Packages: Springer Book Archive