Diagnosis of inherited enzymatic deficiencies with tears: Fabry disease. - Suppr | 超能文献

Diagnosis of inherited enzymatic deficiencies with tears: Fabry disease.

作者信息

Del Monte M A, Johnson D L, Cotlier E, Desnick R J

出版信息

Birth Defects Orig Artic Ser. 1976;12(3):209-19.

PMID:8173

Abstract

摘要

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Diagnosis of inherited enzymatic deficiencies with tears: Fabry disease.

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Editorial: The use of tears for heterozygote detection and genetic counseling.社论：利用眼泪进行杂合子检测和遗传咨询。

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The use of conjunctival biopsy and enzyme analysis in tears for the diagnosis of homozygotes and heterozygotes with Fabry disease.使用结膜活检和泪液中的酶分析来诊断法布里病的纯合子和杂合子。

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Letter: Diagnosis of Fabry's disease by tear alpha-galactosidase A.

N Engl J Med. 1974 Jan 3;290(1):57-8. doi: 10.1056/NEJM197401032900118.

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Fabry disease: diagnosis by alpha-galactosidase activities in tears.法布里病：通过检测泪液中α-半乳糖苷酶活性进行诊断。

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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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An example of rapid prenatal diagnosis of Fabry's disease using microtechniques.使用微技术对法布里病进行快速产前诊断的一个实例。

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引用本文的文献

1

Fibroblast alpha-galactosidase A activity for identification of Fabry's disease heterozygotes.用于鉴定法布里病杂合子的成纤维细胞α-半乳糖苷酶A活性

J Inherit Metab Dis. 1980;2(1):9-12. doi: 10.1007/BF01805555.

2

Anderson-Fabry disease: rapid detection of carriers by hair bulb analysis.

J Inherit Metab Dis. 1978;1(2):71-4. doi: 10.1007/BF01801848.