青少年GM2神经节苷脂贮积症中己糖胺酶组分a的部分缺乏 - Suppr

Suppr

超能文献

Partial deficiency of hexosaminidase component a in juvenile gm2-gangliosidosis.

作者信息

Suzuki Y, Suzuki K

出版信息

Neurology. 1970 Sep;20(9):848-51. doi: 10.1212/wnl.20.9.848.

DOI:10.1212/wnl.20.9.848

PMID:5466454

Abstract

摘要

相似文献

Partial deficiency of hexosaminidase component a in juvenile gm2-gangliosidosis.

Neurology. 1970 Sep;20(9):848-51. doi: 10.1212/wnl.20.9.848.

A case of GM2-gangliosidosis with total hexosaminidase deficiency.

Neurology. 1970 Apr;20(4):388.

Hexosaminidase activities in a case of systemic GM2 gangliosidosis of late infantile type.

Proc Soc Exp Biol Med. 1970 Mar;133(3):997-8. doi: 10.3181/00379727-133-34613.

Gm2-gangliosidosis with total hexosaminidase deficiency.

Neurology. 1971 Apr;21(4):313-28. doi: 10.1212/wnl.21.4.313.

Ganglioside GM2 storage diseases: hexosaminidase deficiencies in cultured fibroblasts.

Am J Hum Genet. 1971 Jan;23(1):55-61.

Ganglioside storage diseases.

Fed Proc. 1971 May-Jun;30(3):956-69.

Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs.

Pathol Eur. 1968;3(2):278-85.

GM1 gangliosidosis type II.

Eur Neurol. 1970;4(1):1-21. doi: 10.1159/000114034.

Juvenile GM2 gangliosidosis: partial deficiency of hexosaminidase A.

J Pediatr. 1970 Dec;77(6):1063-5. doi: 10.1016/s0022-3476(70)80096-8.

Tay-Sachs' retina. Deficiency of acetyl hexosaminidase A.

Arch Ophthalmol. 1971 Sep;86(3):352-6. doi: 10.1001/archopht.1971.01000010354018.

引用本文的文献

Effect of vitamin D3 intake on the onset of disease in a murine model of human Krabbe disease.

J Neurosci Res. 2015 Jan;93(1):28-42. doi: 10.1002/jnr.23476. Epub 2014 Sep 19.

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

Pediatrics. 2006 Nov;118(5):e1550-62. doi: 10.1542/peds.2006-0588. Epub 2006 Oct 2.

Alpha-locus hexosaminidase genetic compound with juvenile gangliosidosis phenotype: clinical, genetic, and biochemical studies.

Am J Hum Genet. 1980 Jul;32(4):508-18.

Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein.

Am J Hum Genet. 1983 Jul;35(4):551-64.

Genetic heterogeneity in metachromatic leukodystrophy.

Am J Hum Genet. 1982 Mar;34(2):171-81.

A case of G M2 gangliosidosis of late onset.

J Neurol Neurosurg Psychiatry. 1972 Oct;35(5):685-92. doi: 10.1136/jnnp.35.5.685.

[Preliminary results in the prenatal diagnosis of Tay-Sachs disease by isoelectric focusing of hexosaminidase A (author's transl)].

Klin Wochenschr. 1974 Feb 1;52(3):145-7. doi: 10.1007/BF01620754.

Human beta-D-N-acetylhexosaminidases A and B: expression and linkage relationships in somatic cell hybrids.

Proc Natl Acad Sci U S A. 1974 Apr;71(4):1569-73. doi: 10.1073/pnas.71.4.1569.

Separation and properties of human brain hexosaminidase C.

Biochem J. 1974 Nov;143(2):295-301. doi: 10.1042/bj1430295.

Separation of three isoenzymes of N-acetyl-beta-D-hexosaminidase from human tissues by cellulose acetate membrane electrophoresis.

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

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