文章基本信息
- 标题：Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment
- 作者：Christian J. Hendriksz ; Joseph Muenzer ; Adeline Vanderver 等
- 期刊名称：Molecular Genetics and Metabolism Reports
- 印刷版ISSN：2214-4269
- 出版年度：2015
- 卷号：5
- 页码：103-106
- DOI：10.1016/j.ymgmr.2015.11.001
- 出版社：Elsevier B.V.
- 摘要：
In mucopolysaccharidoses (MPS), glycosaminoglycans (GAG) accumulate in tissues. In MPS II, approximately two-thirds of patients are cognitively impaired. We investigated levels of GAG in cerebrospinal fluid (CSF) in different populations from four clinical studies (including NCT00920647 and NCT01449240). Data indicate that MPS II patients with cognitive impairment have elevated levels of CSF GAG, whereas those with the attenuated phenotype typically have levels falling between those of the cognitively affected patients and healthy controls.
- 关键词：Mucopolysaccharidosis II ; Lysosomal storage disease ; Cerebrospinal fluid ; Glycosaminoglycans ; Idursulfase ; Cognitive impairment ; Inherited metabolic disease
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