通过丙烯酰胺凝胶电泳鉴定泰-萨克斯病携带者。 - Suppr

Suppr

超能文献

Identification of Tay-Sachs disease carriers by acrylamide gel electrophoresis.

作者信息

Friedland J, Schneck L, Saifer A, Pourfar M, Volk B W

出版信息

Clin Chim Acta. 1970 Jun;28(3):397-402. doi: 10.1016/0009-8981(70)90064-1.

DOI:10.1016/0009-8981(70)90064-1

PMID:5450163

Abstract

摘要

相似文献

Identification of Tay-Sachs disease carriers by acrylamide gel electrophoresis.通过丙烯酰胺凝胶电泳鉴定泰-萨克斯病携带者。

Clin Chim Acta. 1970 Jun;28(3):397-402. doi: 10.1016/0009-8981(70)90064-1.

Separation of N-acetyl- -D-hexosaminamidase-isoenzymes from human brain and leukocytes by cellulose acetate paper electrophoresis: a simple procedure for the diagnosis of Tay-Sachs disease.通过醋酸纤维素纸电泳从人脑中分离 N-乙酰-β-D-己糖胺酶同工酶及白细胞：一种诊断泰-萨克斯病的简单方法。

Isr J Med Sci. 1971 Sep;7(9):1086-9.

Prenatal diagnosis of Tay-Sachs genotypes.泰-萨克斯基因型的产前诊断。

Br Med J. 1971 Oct 2;4(5778):17-20. doi: 10.1136/bmj.4.5778.17.

Diagnosis of Tay-Sachs disease by hexosaminidase activity in leukocytes and amniotic fluid cells.通过白细胞和羊水细胞中的己糖胺酶活性诊断泰-萨克斯病。

Isr J Med Sci. 1971 Feb;7(2):259-63.

Detection of Tay-Sachs disease heterozygotes by assay of hexosaminidase A in serum and leukocytes.

J Pediatr. 1971 Apr;78(4):643-7. doi: 10.1016/s0022-3476(71)80467-5.

Urinary test for identification of Tay-Sachs genotypes.用于鉴定泰-萨克斯病基因型的尿液检测

J Pediatr. 1972 Jun;80(6):1026-30. doi: 10.1016/s0022-3476(72)80020-9.

Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component.泰-萨克斯病：普遍缺乏β-D-N-乙酰己糖胺酶成分。

Science. 1969 Aug 15;165(3894):698-700. doi: 10.1126/science.165.3894.698.

A screening program for Tay-Sachs disease in Israel.以色列的泰-萨克斯病筛查项目。

Isr J Med Sci. 1973 Sep-Oct;9(9):1330-4.

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.

Caveats of antenatal diagnosis of Tay-Sachs disease.泰-萨克斯病产前诊断的注意事项。

Am J Obstet Gynecol. 1973 Feb 15;115(4):554-5.

引用本文的文献

Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay-Sachs Disease.泰-萨克斯病的诊断进展、病理机制、临床影响及未来治疗前景

Neurol Int. 2025 Jun 25;17(7):98. doi: 10.3390/neurolint17070098.

Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease.从视频系列和文献回顾中诊断晚期泰-萨克斯病患者的技巧。

Tremor Other Hyperkinet Mov (N Y). 2022 Dec 27;12:34. doi: 10.5334/tohm.726. eCollection 2022.

[Enzymatic studies on the blood of carriers of a Tay-Sachs disease variant (variant O)].[对泰-萨克斯病变异型（O型变异型）携带者血液的酶学研究]

Klin Wochenschr. 1971 Nov 1;49(21):1189-91. doi: 10.1007/BF01732464.

Inheritance of the enzyme deficiency in three neurolipidoses: variant 0 of Tay-Sachs disease (Sandhoff's disease), classic Tay-Sachs disease, and metachromatic leukodystrophy. Identification of the heterozygous carriers.三种神经脂质贮积症中酶缺乏的遗传：泰-萨克斯病（桑德霍夫病）的0型变体、典型泰-萨克斯病和异染性脑白质营养不良。杂合子携带者的鉴定。

Humangenetik. 1973;20(1):9-24. doi: 10.1007/BF00280871.

Absence of -N-acetyl-D-hexosaminidase A activity in a healthy woman.一名健康女性体内缺乏β-N-乙酰氨基己糖苷酶A活性。

Am J Hum Genet. 1973 Jul;25(4):372-81.

Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.

Am J Hum Genet. 1973 May;25(3):287-93.

Separation of three isoenzymes of N-acetyl-beta-D-hexosaminidase from human tissues by cellulose acetate membrane electrophoresis.通过醋酸纤维素膜电泳从人体组织中分离N-乙酰-β-D-己糖胺酶的三种同工酶。

J Clin Pathol. 1974 Nov;27(11):913-5. doi: 10.1136/jcp.27.11.913.

[Juvenile GM2 gangliosidosis with altered substrate specificity of hexosaminidase A (author's transl)].伴有己糖胺酶A底物特异性改变的青少年GM2神经节苷脂贮积症（作者译）

Acta Neuropathol. 1974 Mar 26;27(3):225-32. doi: 10.1007/BF00687632.

Biochemistry and genetics of gangliosidoses.神经节苷脂贮积症的生物化学与遗传学

Hum Genet. 1979;50(2):107-43. doi: 10.1007/BF00390234.

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.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验