New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression

被引：10
|
作者：
Mayer, Fabiana Quoos [1 ]
Pereira, Femanda dos Santos [1 ]
Fensom, Anthony H. [2 ]
Slade, Christina [2 ]
Matte, Ursula [1 ]
Giugliani, Roberto [1 ]
机构：
[1] Hosp Clin Porto Alegre, Res Ctr, Gene Therapy Lab, BR-90035903 Porto Alegre, RS, Brazil
[2] Guys Hosp, Enzyme Lab, Genet Ctr, London SE1 9RT, England
来源：
MOLECULAR GENETICS AND METABOLISM | 2009年 / 96卷 / 03期
关键词：
BETA-GALACTOSIDASE; GANGLIOSIDOSIS;
D O I：
10.1016/j.ymgme.2008.11.159
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：148 / 148
页数：1
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