Tay-Sachs disease--the use of tears for the detection of heterozygotes.
作者信息
Carmody P J, Rattazzi M C, Davidson R G
出版信息
N Engl J Med. 1973 Nov 15;289(20):1072-4. doi: 10.1056/NEJM197311152892006.
PMID:4742222
Abstract
摘要
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Tay-Sachs disease--the use of tears for the detection of heterozygotes.泰-萨克斯病——利用眼泪检测杂合子。
N Engl J Med. 1973 Nov 15;289(20):1072-4. doi: 10.1056/NEJM197311152892006.
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Hexosaminidase A in tears and saliva for rapid identification of Tay-Sachs disease and its carriers.通过检测眼泪和唾液中的己糖胺酶A快速诊断泰-萨克斯病及其携带者
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Tay-Sachs disease: an improved, fully-automated method for heterozygote identification by tear beta-hexosaminidase assay.泰-萨克斯病：一种通过泪液β-己糖胺酶检测鉴定杂合子的改进型全自动方法。
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Diagnosis of homozygotes and heterozygotes of GM2 gangliosidosis by hexoaminidases assay.
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Letter: Testing for Tay-Sachs heterozygotes.信函：对泰-萨克斯病杂合子进行检测。
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A screening program for Tay-Sachs disease in Israel.以色列的泰-萨克斯病筛查项目。
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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。
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[Detection of carriers of Tay-Sachs disease by determining blood N-acetylhexosaminadase A activity].
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引用本文的文献
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Tay-Sachs disease: to screen or not to screen?泰-萨克斯病：筛查还是不筛查？
J Relig Health. 1976 Oct;15(4):271-81. doi: 10.1007/BF01533311.
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Segregation of Tay-Sachs and Sandhoff alleles in a non-Jewish family.一个非犹太家庭中泰-萨克斯等位基因和桑德霍夫等位基因的分离
Am J Hum Genet. 1980 Nov;32(6):920-6.
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Tay-Sachs disease heterozygote detection in Brazil: comparison between tears and leukocytes as beta-hexosaminidase A source.巴西泰-萨克斯病杂合子检测：以泪液和白细胞作为β-己糖胺酶A来源的比较
J Inherit Metab Dis. 1984;7(1):35-7. doi: 10.1007/BF01805619.
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Antiprotease activity in tears and nasal secretions.
Humangenetik. 1974 Jun 26;23(1):73-7. doi: 10.1007/BF00295685.
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Genetic polymorphism of human anodal tear protein.
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Basic findings and current developments in sphingolipidoses.鞘脂贮积病的基本研究结果与当前进展
Hum Genet. 1979 Mar 12;47(2):113-34. doi: 10.1007/BF00273194.
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Progress in investigations of sphingolipidoses.鞘脂类贮积病的研究进展
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