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The activity of carbamoyl-phosphate synthetase I and ornithine carbamoyltransferase (OCT) in the intestine and screening for OCT deficiency in the rectal Mucosa

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Journal of Inherited Metabolic Disease

Abstract

Carbamoyl-phosphate synthetase I and ornithine carbamoyltransferase are present in small intestine and rectum. Rectal mucosa may be used in the detection of ornithine carbamoyltransferase deficiency.

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Matsushima, A., Orii, T. The activity of carbamoyl-phosphate synthetase I and ornithine carbamoyltransferase (OCT) in the intestine and screening for OCT deficiency in the rectal Mucosa. J Inherit Metab Dis 4, 83–84 (1981). https://doi.org/10.1007/BF02263602

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