Saccharopinuria: A new inborn error of lysine metabolism [17]

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Abstract

DURING the routine screening of mentally retarded persons in Northern Ireland for amino-acid disorders with the aid of paper chromatographic techniques, a patient was discovered who excreted large quantities of lysine, citrulline, histidine and an unidentified amino-acid in her urine. © 1968 Nature Publishing Group.

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Carson, N. A. J., Scally, B. G., Neill, D. W., & Carré, I. J. (1968). Saccharopinuria: A new inborn error of lysine metabolism [17]. Nature. https://doi.org/10.1038/218679a0

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