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.
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CARSON, N., SCALLY, B., NEILL, D. et al. Saccharopinuria: a New Inborn Error of Lysine Metabolism. Nature 218, 679 (1968). https://doi.org/10.1038/218679a0
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DOI: https://doi.org/10.1038/218679a0
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