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Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas A pilot study》.pdf
Clinica Chimica Acta 413 (2012) 126–130 Contents lists available at SciVerse ScienceDirect Clinica Chimica Acta j ournal homepage: /locate/clinchim Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study Han-Chih Hencher Lee a, 1, Chi-Kong Lai a, 1, Kin-Cheong Eric Yau b, Tak-Shing Siu c, Chloe Miu Mak a, Yuet-Ping Yuen a, Kwok-Yin Chan b, Sidney Tam c, Ching-Wan Lam d,⁎, Albert Yan-Wo Chan a a Department of Pathology, Princess Margaret Hospital, Hong Kong, China b Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China c Division of Clinical Biochemistry, Queen Mary Hospital, Hong Kong, China d Department of Pathology, The University of Hong Kong, Hong Kong, China a r t i c l e i n f o a b s t r a c t Article history: Background: The diagnosis of aromatic L-amino acid decarboxylase (AADC) deficiency, one of the pediatric Received 24 December 2010 neurotransmitter disorders, is classically made with plasma enzyme level or cerebrospinal fluid (CSF) neu- Received in revised form 6 September 2011 rotransmitter profile, while both are technically demanding and the latter requires the invasive lumbar Accepted 7 September 2011 puncture. So far less than 100 cases have been reported worldwide with 20% from Taiwan. It was postulated Available online 21 September 2011 that the condition might have been under-diagnosed among Chinese populations and a non-invasive
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