Recent advances of Fabry disease screening for at risk population

被引：11

作者：

Caudron, É

Molière, D

Zhou, JY

Prognon, P

Germain, DP

机构：

[1] Fac Pharm Chatenay Malabry, Grp Chim Analyt Paris Sud, EA 3343, Chim Analyt Lab, F-92296 Chatenay Malabry, France

[2] Hop Europeen Georges Pompidou, Unite Fonct Genet Clin, F-75015 Paris, France

来源：

M S-MEDECINE SCIENCES | 2005年 / 21卷

关键词：

D O I：

10.1051/medsci/20052111s48

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

An experience in screening of Fabry disease in population at risk by measuremnt of alpha-galactosidase is described. The enzymatic diagnosis in dried blood spots on filter paper is performed on 51 subjects, 15 hemizygous men, 12 heterozygous women and 24 controls. Only 9 of these 12 hererozygous women (75 %) present a reduced activity of alpha-galactosidase A.

引用

页码：48 / 50

页数：3

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