文章基本信息
- 标题：Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)
- 本地全文：下载
- 作者：Olaf Bodamer ; Maurizio Scarpa ; Christina Hung 等
- 期刊名称：Molecular Genetics and Metabolism Reports
- 印刷版ISSN：2214-4269
- 出版年度：2017
- 卷号：11
- 页码：62-64
- DOI：10.1016/j.ymgmr.2017.02.004
- 出版社：Elsevier B.V.
- 摘要：
There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 patients enrolled in the Hunter Outcome Survey (HOS). This analysis indicated that birth weight is not an early marker of MPS II and is not associated with disease severity. It remains important to investigate the utility of other factors for early/pre-symptomatic diagnosis.
- 关键词：Growth ; Hunter syndrome ; Lysosomal storage disease ; Iduronate-2-sulfatase deficiency
