N8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics

标题
N8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics
作者
关键词
Spermine, Spermidine, Myoclonic Jerk, HFBA, Clinical Exome Sequencing
出版物
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 39, Issue 1, Pages 131-137
出版商
Springer Nature
发表日期
2015-07-14
DOI
10.1007/s10545-015-9876-y

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