Picture of the month. Tay-Sachs disease.
作者信息
Arisoy A E, Ozden S, Arisoy E S, Kocabay K, Guvenc H, Tunnessen W W
机构信息
Department of Pediatrics, Firat University School of Medicine, Elazig, Turkey.
出版信息
Am J Dis Child. 1992 Jun;146(6):767-8. doi: 10.1001/archpedi.1992.02160180127032.
Abstract
摘要
相似文献
1
Picture of the month. Tay-Sachs disease.本月病例图片。泰-萨克斯病。
Am J Dis Child. 1992 Jun;146(6):767-8. doi: 10.1001/archpedi.1992.02160180127032.
2
Population-based carrier screening and prenatal diagnosis.基于人群的携带者筛查和产前诊断。
MLO Med Lab Obs. 2004 Aug;36(8):12-7; quiz 20-1.
3
Ethical Issues with Genetic Testing for Tay-Sachs.泰-萨克斯病基因检测的伦理问题。
J Christ Nurs. 2017 Oct/Dec;34(4):246-249. doi: 10.1097/CNJ.0000000000000426.
4
The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program.在巴西犹太人群体中，导致泰-萨克斯病的突变频率证明了开展携带者筛查项目的合理性。
Sao Paulo Med J. 2001 Jul 5;119(4):146-9. doi: 10.1590/s1516-31802001000400007.
5
Heterozygote screening for Tay-Sachs disease: past successes and future challenges.泰-萨克斯病杂合子筛查：过去的成功与未来的挑战。
Curr Opin Pediatr. 1996 Dec;8(6):625-9. doi: 10.1097/00008480-199612000-00014.
6
[Tay-Sachs disease: a case report].
Padiatr Padol. 1991;26(6):275-8.
7
[Cherry red spot macula in the context of Tay-Sachs disease].[泰-萨克斯病背景下的樱桃红斑黄斑]
J Fr Ophtalmol. 2017 Nov;40(9):805-806. doi: 10.1016/j.jfo.2017.01.024. Epub 2017 Oct 10.
8
The molecular basis of Tay-Sachs disease: mutation identification and diagnosis.泰-萨克斯病的分子基础：突变鉴定与诊断
Clin Biochem. 1990 Oct;23(5):409-15. doi: 10.1016/0009-9120(90)90153-l.
9
Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews.通过突变分析对阿什肯纳兹犹太人中常见疾病进行特定人群筛查。
Hum Mutat. 1996;8(2):116-25. doi: 10.1002/(SICI)1098-1004(1996)8:2<116::AID-HUMU3>3.0.CO;2-9.
10
PCR analysis of hair root specimens to detect Tay-Sachs disease carriers in Ashkenazi Jews.对发根样本进行聚合酶链反应（PCR）分析，以检测德系犹太人中泰-萨克斯病携带者。
Clin Chem. 1995 Feb;41(2):321-2.
Zotero 插件