Enzyme studies on a new case of ornithine carbamoyl transferase deficiency: remaining problems and a method of diagnosis based on plasma enzyme ratios.
作者信息
Pollitt R J, Black J A, Gray R G, Lyons V H
出版信息
Ann Clin Biochem. 1977 May;14(3):139. doi: 10.1177/000456327701400129.
PMID:17346
Abstract
摘要
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Enzyme studies on a new case of ornithine carbamoyl transferase deficiency: remaining problems and a method of diagnosis based on plasma enzyme ratios.一例鸟氨酸氨甲酰基转移酶缺乏症新病例的酶学研究：遗留问题及基于血浆酶比率的诊断方法
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Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity.
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[Hereditary hyperammonemia due to qualitative abnormality of hepatic and intestinal ornithine carbamoyl-transferase].[由于肝脏和肠道鸟氨酸氨基甲酰转移酶的质量异常导致的遗传性高氨血症]
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A simple approach to to predict residual liver ornithine carbamoyltransferase (OCT) activity from serum enzyme ratios.一种通过血清酶比率预测残余肝脏鸟氨酸氨甲酰基转移酶（OCT）活性的简单方法。
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