BLOOD-BASED DIAGNOSTIC TESTING FOR POMPE DISEASE: CONSISTENCY BETWEEN GAA ENZYME ACTIVITY IN DRIED BLOOD SPOTS AND GAA GENE SEQUENCING RESULTS

被引：6

作者：

Aydinlar, Elif Ilgaz ^{[1
]}

Rolfs, Arndt ^{[2
]}

Serteser, Mustafa ^{[3
]}

Parman, Yesim ^{[4
]}

机构：

[1] Acibadem Univ, Sch Med, Dept Neurol, TR-34848 Istanbul, Turkey

[2] Univ Rostock, Sch Med, Dept Neurol, D-18055 Rostock, Germany

[3] Acibadem Univ, Sch Med, Dept Med Biochem, Istanbul, Turkey

[4] Istanbul Univ, Sch Med, Istanbul Fac, Dept Neurol, Istanbul, Turkey

来源：

MUSCLE & NERVE | 2014年 / 49卷 / 05期

关键词：

PSEUDODEFICIENCY;

D O I：

10.1002/mus.24149

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

引用

页码：775 / 776

页数：2

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