X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy

被引：8
|
作者：
Engelen, Marc [1 ,2 ]
van der Kooi, Anneke J. [1 ]
Kemp, Stephan [2 ]
Wanders, Ronald J. A. [2 ]
Sistermans, Erik A. [3 ]
Waterham, Hans R. [2 ]
Koelman, Johannes T. M. [1 ]
van Geel, Bjorn M. [1 ,4 ]
de Visser, Marianne [1 ]
机构：
[1] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1105 AZ Amsterdam, Netherlands
[2] Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands
[3] Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Amsterdam, Netherlands
[4] Med Ctr Alkmaar, Dept Neurol, Alkmaar, Netherlands
来源：
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM | 2011年 / 16卷 / 04期
关键词：
ADRENOLEUKODYSTROPHY; GENE; ABNORMALITIES;
D O I：
10.1111/j.1529-8027.2011.00367.x
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：353 / 355
页数：3
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