A microtechnique for quantitative measurements of acid hydrolases in fibroblasts. Its application in diagnosis of Fabry disease and enzyme replacement studies. - Suppr | 超能文献

A microtechnique for quantitative measurements of acid hydrolases in fibroblasts. Its application in diagnosis of Fabry disease and enzyme replacement studies.

作者信息

Hasholt L, Sørensen S A

出版信息

Clin Chim Acta. 1984 Sep 29;142(2):257-61. doi: 10.1016/0009-8981(84)90384-x.

DOI:10.1016/0009-8981(84)90384-x

Abstract

摘要

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A microtechnique for quantitative measurements of acid hydrolases in fibroblasts. Its application in diagnosis of Fabry disease and enzyme replacement studies.

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Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease.人成纤维细胞中α-半乳糖苷酶A的合成与加工。法布里病不同突变的证据。

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Lysosomal alpha-galactosidase in endothelial cell cultures established from a Fabry hemizygous and normal umbilical veins.从法布里半合子和正常脐静脉建立的内皮细胞培养物中的溶酶体α-半乳糖苷酶

Hum Genet. 1986 Jan;72(1):72-6. doi: 10.1007/BF00278821.

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A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations.一名携带新突变的法布里病杂合子：生化、超微结构及临床研究

J Med Genet. 1990 May;27(5):303-6. doi: 10.1136/jmg.27.5.303.