A fully automated method for identification of Tay-Sachs disease carriers by tear beta-hexosaminidase assay.
作者信息
Desnick R J, Truex J H, Goldberg J D
出版信息
Prog Clin Biol Res. 1977;18:245-65.
PMID:23556
Abstract
摘要
相似文献
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A fully automated method for identification of Tay-Sachs disease carriers by tear beta-hexosaminidase assay.一种通过泪液β-己糖胺酶检测来鉴定泰-萨克斯病携带者的全自动方法。
Prog Clin Biol Res. 1977;18:245-65.
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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。
Clin Chim Acta. 1977 May 16;77(1):43-52. doi: 10.1016/0009-8981(77)90400-4.
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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
Lancet. 1973 Nov 17;2(7838):116-9.
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Laboratory methods and quality control in the Toronto Tay-Sachs program.多伦多泰-萨克斯病项目中的实验室方法与质量控制。
Prog Clin Biol Res. 1977;18:221-6.
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Carrier screening techniques for Tay-Sachs and other lysosomal storage diseases.用于检测泰-萨克斯病及其他溶酶体贮积症的携带者筛查技术。
Prog Clin Biol Res. 1977;18:213-9.
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Tay-Sachs disease heterozygote detection: a quality control study.泰-萨克斯病杂合子检测：一项质量控制研究。
Prog Clin Biol Res. 1977;18:267-79.
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Identification of Tay-Sachs by hexosaminidase analysis of urine and tear samples.通过对尿液和泪液样本进行己糖胺酶分析来鉴定泰-萨克斯病。
Adv Exp Med Biol. 1976;68:339-66. doi: 10.1007/978-1-4684-7735-1_23.
引用本文的文献
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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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GM1 gangliosidosis: clinical and laboratory findings in eight families.
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