Chen, Pin-WenPin-WenChenWUH-LIANG ​​HWUNI-CHUNG LEEYIN-HSIU CHIEN2023-10-312023-10-312023-08-1510967192https://scholars.lib.ntu.edu.tw/handle/123456789/636684Aromatic 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.en3-O-methyldopa; AADC deficiency; Aromatic L-amino-acid decarboxylase; Expanded newborn screening; High performance liquid chromatography; Tandem mass spectrometry[SDGs]SDG3journal article10.1016/j.ymgme.2023.107687376350292-s2.0-85168839649https://api.elsevier.com/content/abstract/scopus_id/85168839649