Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area - Ling, Tsz-Ki; Wong, Ka-Chung; Chan, Candace Yim; Lau, Nike Kwai-Cheung; Law, Chun-yiu; Lee, Han-Chih Hencher; Lai, Chi-Kong; Chong, Yeow-Kuan; Yau, Kin-Cheong Eric; Cheung, Ka-Ming; Ko, Chun-Hung; Fung, Cheuk-wing; et al. (Clinica chimica acta, 2021)
Keywords: AADC deficiency; CSF neurotransmitter; Diagnostic algorithm; N-acetylvanilalanine; Urine vanillactic acid; Urine vanillactic acid; CSF neurotransmitter; N-acetylvanilalanine; Diagnostic algorithm; AADC deficiency