[人绒毛膜细胞中二氢蝶啶还原酶的活性形式。产前诊断的可能性]
[Active form of dihydropteridine reductase in human chorion cells. Possibility of prenatal diagnosis].
作者信息
Gromov P S, Bakharev V A, Annenkov G A
出版信息
Vopr Med Khim. 1985 Jul-Aug;31(4):73-5.
PMID:4049790
Abstract
Activity of dihydropteridine reductase was studied in human chorion cells for development of accurate methods for prenatal diagnosis of phenylketonuria (especially its most severe form known as lethal hyperphenylalaninemia).
摘要
研究了人绒毛膜细胞中二氢蝶啶还原酶的活性，以开发用于苯丙酮尿症（尤其是其最严重形式，即致死性高苯丙氨酸血症）产前诊断的准确方法。
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[Active form of dihydropteridine reductase in human chorion cells. Possibility of prenatal diagnosis].[人绒毛膜细胞中二氢蝶啶还原酶的活性形式。产前诊断的可能性]
Vopr Med Khim. 1985 Jul-Aug;31(4):73-5.
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Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells.二氢蝶啶还原酶缺乏所致高苯丙氨酸血症。对患病婴儿、杂合子的成纤维细胞以及正常羊水细胞中的该酶进行测定。
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Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood cells.通过对外周血细胞进行检测诊断二氢蝶啶还原酶缺乏症。
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