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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.

DOI:10.1002/pd.1970150511
PMID:7644438
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

相似文献

1
Prenatal exclusion of the HHH syndrome.
Prenat Diagn. 1995 May;15(5):474-6. doi: 10.1002/pd.1970150511.
2
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引用本文的文献

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Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan.萨斯喀彻温省北部高鸟氨酸血症-高氨血症-同型瓜氨酸血症（HHH）综合征的诊断和高发率。
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S275-81. doi: 10.1007/s10545-010-9148-9. Epub 2010 Jun 24.