1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism.

Abstract

BACKGROUND The diagnosis of inborn errors of purine and pyrimidine metabolism is often difficult. We examined the potential of 1H-NMR as a tool in evaluation of patients with these disorders. METHODS We performed 1H-NMR spectroscopy on 500 and 600 MHz instruments with a standardized sample volume of 500 microL. We studied body fluids from 25 patients with… (More)

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