文章基本信息
- 标题：Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry
- 本地全文：下载
- 作者：Aileen Kenneson ; Yetsa Osara ; Theresa Pringle 等
- 期刊名称：Molecular Genetics and Metabolism Reports
- 印刷版ISSN：2214-4269
- 出版年度：2018
- 卷号：15
- 页码：22-27
- DOI：10.1016/j.ymgmr.2018.01.001
- 出版社：Elsevier B.V.
- 关键词：Maple syrup urine disease ; Inherited metabolic disorder ; Inborn error of metabolism ; Natural history ; Registry
