Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: A case study

被引：30

作者：

Case, Laura E. ^{[1
]}

Koeberl, Dwight D. ^{[2
]}

Young, Sarah P. ^{[2
]}

Bali, Deeksha ^{[2
]}

DeArmey, Stephanie M. ^{[2
]}

Mackey, Joanne ^{[2
]}

Kishnani, Priya S. ^{[2
]}

机构：

[1] Duke Univ, Med Ctr, Dept Community & Family Med, Div Phys Therapy, Durham, NC 27708 USA

[2] Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27708 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2008年 / 95卷 / 04期

关键词：

Late-onset Pompe disease; Glycogen storage disease type II; Enzyme replacement therapy; Myozyme;

D O I：

10.1016/j.ymgme.2008.09.001

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Benefits of enzyme replacement therapy with Myozyme (R) (alglucosidase alfa), anecdotally reported in late-onset Pompe disease, range from motor and pulmonary improvement in less severely affected patients, to stabilization with minimal improvement in those with advanced disease. We report a case of a 63-year-old patient with significant morbidity who made notable motor and pulmonary function gains after two years on therapy. Thus, improvements in those with advanced disease may be possible after long-term treatment. (C) 2008 Elsevier Inc. All rights reserved.

引用

页码：233 / 235

页数：3

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