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遗传性鞘脂代谢疾病的产前诊断
Prenatal Diagnosis of Sphingolipidosis
【摘要】 <正> 遗传咨询和产前诊断工作,对于提倡优生、降低遗传病发生率极为重要。我国产前诊断工作始于1977年。去年,我们进行了经培养的正常羊水细胞中三种鞘脂降解所需酶(β-半乳糖苷醇,β-氨基己糖苷酶及芳基硫酸酯酶A)的活性测定,为产前诊断鞘脂代谢疾病中较常见的Gm1神经节苷脂贮积症,黑矇性
【Abstract】 Methods for assaying activities of |3-galactosidase,hexosaminida8e A and aryl-sulfatase A in cultured amniotic cells were set up according to published repots. The average values for normal pregnancies at 16-20 weeks were determined as a reference for the prenatal diagnosis of GM1 gangliosidosis, Tay-Sachs disease and metachromatic leukodystrophy.
- 【文献出处】 中国医学科学院学报 ,Acta Academiae Medicinae Sinicae , 编辑部邮箱 ,1984年06期
- 【被引频次】8
- 【下载频次】43