GM1 型全身性神经节苷脂贮积症的临床及酶学变化 - Suppr

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超能文献

Clinical and enzymatic variations in G M1 generalized gangliosidosis.

作者信息

Singer H S, Schafer I A

出版信息

Am J Hum Genet. 1972 Jul;24(4):454-63.

PMID:5031983

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1762258/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13b6/1762258/ff57c58c0a12/ajhg00455-0103-a.jpg

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An improved procedure for starch-gel electrophoresis: further variations in the serum proteins of normal individuals.淀粉凝胶电泳的一种改进方法：正常个体血清蛋白的进一步变异

Biochem J. 1959 Mar;71(3):585-7. doi: 10.1042/bj0710585.

Separation and properties of beta-galactosidase, beta-glucosidase, beta-glucuronidase and N-acetyl-beta-glucosaminidase from rat kidney.大鼠肾脏中β-半乳糖苷酶、β-葡萄糖苷酶、β-葡萄糖醛酸酶和N-乙酰-β-葡萄糖胺酶的分离及性质

Biochem J. 1967 Feb;102(2):525-32. doi: 10.1042/bj1020525.

Isolation of beta-galactosidase and beta-glucosidase from brain.从大脑中分离β-半乳糖苷酶和β-葡萄糖苷酶。

Biochim Biophys Acta. 1966 Mar 7;113(3):567-76. doi: 10.1016/s0926-6593(66)80014-0.

Glycosidases in the nervous system. 3. Separation, purification, and substrate specificities of beta-galactosidases and beta-glucuronidase from brain.神经系统中的糖苷酶。3. 从大脑中分离、纯化β-半乳糖苷酶和β-葡萄糖醛酸酶及其底物特异性

J Biol Chem. 1968 Aug 25;243(16):4258-66.

Generalized gangliosidosis: beta-galactosidase deficiency.全身性神经节苷脂沉积症：β-半乳糖苷酶缺乏症。

Science. 1968 May 31;160(3831):1002-4. doi: 10.1126/science.160.3831.1002.

GM1-gangliosidosis types 1 and 2: enzymatic differences in cultured fibroblasts.GM1神经节苷脂沉积症1型和2型：培养成纤维细胞中的酶学差异

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