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Prenatal exclusion of the HHH syndrome.

作者信息

Gray R G, Green A, Hall S, McKeown C

机构信息

Department of Clinical Chemistry, Children's Hospital, Birmingham, U.K.

出版信息

Prenat Diagn. 1995 May;15(5):474-6. doi: 10.1002/pd.1970150511.

Abstract

Prenatal diagnosis of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria syndrome is described by the analysis of ornithine incorporation in second-trimester cultured amniotic fluid cells. An unaffected fetus was predicted and confirmed in the newborn child. This is the third reported prenatal diagnosis for this disorder and the second predicting an unaffected fetus.

摘要

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