I型细胞病携带者的血清己糖胺酶活性。
Serum hexosaminidase activity in I-cell disease carriers.
作者信息
Vidgoff J, Buist N R
出版信息
Hum Genet. 1977 May 10;36(3):307-16. doi: 10.1007/BF00446281.
PMID:852874
Abstract
Serum heat stable hexosaminidase activities are used to identify 47-I-cell disease heterozygotes in a large kindred. Serum beta-hexosaminidase isozyme patterns in normal individuals, Tay-Sachs disease carriers, I-cell disease carriers and in cord blood samples are compared.
摘要
血清热稳定己糖胺酶活性用于在一个大家族中鉴定47名I型细胞病杂合子。比较了正常个体、泰-萨克斯病携带者、I型细胞病携带者以及脐带血样本中的血清β-己糖胺酶同工酶模式。
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