Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.
作者信息
O'Brien J S, Okada S, Chen A, Fillerup D L
出版信息
N Engl J Med. 1970 Jul 2;283(1):15-20. doi: 10.1056/NEJM197007022830104.
PMID:4986776
Abstract
摘要
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Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.泰-萨克斯病。通过血清己糖胺酶测定法检测杂合子和纯合子。
N Engl J Med. 1970 Jul 2;283(1):15-20. doi: 10.1056/NEJM197007022830104.
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Changes of serum hexosaminidase for the presumptive diagnosis of type I Gaucher disease in Tay-Sachs carrier screening.
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Rapid test for the detection of Tay-Sachs disease heterozygotes and homozygotes by serum hexosaminidase assay.通过血清己糖胺酶测定法快速检测泰-萨克斯病杂合子和纯合子的试验。
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Detection of Tay-Sachs disease heterozygotes by assay of hexosaminidase A in serum and leukocytes.
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