羊水细胞游离液中泰-萨克斯病的产前诊断
Prenatal diagnosis of Tay-Sachs disease in cell-free amniotic fluid.
作者信息
Christomanou H, Cáp C, Sandhoff K
出版信息
Klin Wochenschr. 1978 Nov 15;56(22):1133-5. doi: 10.1007/BF01477136.
PMID:713433
Abstract
The diagnosis of 6 known Tay-Sachs cases was confirmed by isoelectric focusing of the cell-free amniotic fluid. The presence of an additional--hitherto unknown--heatstable, acid hexosaminidase X in normal and pathological amniotic fluids must be taken into account especially when the heat denaturation method of detecting Tay-Sachs disease is applied. Hexosaminidase X shows some properties similar to those of hexosaminidase B.
摘要
通过对羊水细胞游离液进行等电聚焦，确诊了6例已知的泰-萨克斯病病例。在正常和病理性羊水中存在一种额外的——迄今未知的——热稳定酸性己糖胺酶X，尤其在应用检测泰-萨克斯病的热变性方法时，必须予以考虑。己糖胺酶X显示出一些与己糖胺酶B相似的特性。
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