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- W2068202565 abstract "Abstract A high‐performance liquid‐chromatographic method was used to separate and identify uracil, uridine, pseudouridine and orotic acid after preliminary extraction in two patients (McKusick 20780). Urinary uracil excretion was 10–35 times normal in both patients with arginase deficiency. Uridine and orotic acid, not normally detected, were excreted in large amounts and were directly influenced by protein intake. Their excretions were correlated with urinary arginine excretion. Urinary uracil levels remained consistently high and showed minimal variations with increased protein intake or urinary arginine levels. The measurement of urinary pyrimidines appears to be useful for the detection, differential diagnosis and dietary monitoring of patients with urea cycle disorders. The data presented extends this observation to include patients with arginase deficiency." @default.
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- W2068202565 date "1981-12-01" @default.
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- W2068202565 title "Urinary pyrimidine excretion in arginase deficiency" @default.
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- W2068202565 doi "https://doi.org/10.1007/bf02263653" @default.
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