https://scholars.lib.ntu.edu.tw/handle/123456789/636684
標題: | Streamlined determination of 3-O-methyldopa in dried blood spots: Prospective screening for aromatic l-amino-acid decarboxylase deficiency | 作者: | Chen, Pin-Wen WUH-LIANG HWU NI-CHUNG LEE YIN-HSIU CHIEN |
關鍵字: | 3-O-methyldopa; AADC deficiency; Aromatic L-amino-acid decarboxylase; Expanded newborn screening; High performance liquid chromatography; Tandem mass spectrometry | 公開日期: | 15-八月-2023 | 來源出版物: | Molecular genetics and metabolism | 摘要: | Aromatic L-amino-acid decarboxylase (AADC) deficiency diagnosis is often delayed by low disease awareness and specific laboratory examinations. We demonstrated that an elevated concentration of L-dopa metabolite 3-O-methyldopa (3-OMD) in dried blood spots could be integrated into a newborn screening program to detect AADC deficiency. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/636684 | ISSN: | 10967192 | DOI: | 10.1016/j.ymgme.2023.107687 |
顯示於: | 醫學系 |
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