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- W2067601829 abstract "In this issue of the Journal, Arn et al.1 describe a new clinical entity: ammonia intoxication in otherwise healthy women, particularly in the postpartum period. The entity results from a defect at the X-chromosome locus for the liver-specific urea-cycle enzyme ornithine carbamoyltransferase (also called ornithine transcarbamoylase). The condition is striking not only because of its potentially catastrophic nature — two of the five women reported on died — but also because it occurs in the heterozygous carrier state; these women had one normal ornithine carbamoyltransferase gene in addition to their mutant one.Until now, ornithine carbamoyltransferase deficiency has been known . . ." @default.
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- W2067601829 date "1990-06-07" @default.
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- W2067601829 title "Precarious Balance of Nitrogen Metabolism in Women with a Urea-Cycle Defect" @default.
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- W2067601829 doi "https://doi.org/10.1056/nejm199006073222310" @default.
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