Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area

Author:

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-KuanORCID,Yau Kin-Cheong Eric,Cheung Ka-Ming,Ko Chun-Hung,Fung Cheuk-wing,Lee Lai-Ka,Wong Sheila Suet-Na,Mak Chloe M,Chan Albert Yan-Wo,Tam Sidney,Lam Ching-wan

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference26 articles.

1. Aromatic amino acid decarboxylase deficiency in twins;Hyland;J. Inherit. Metab. Dis.,1990

2. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency;Brun;Neurology,2010

3. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency;Wassenberg;Orphanet journal of rare diseases,2017

4. Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study;Lee;Clinica chimica acta; international journal of clinical chemistry,2012

5. AADC deficiency: occurring in humans, modeled in rodents, Advances in pharmacology (San Diego;Hwu;Calif.),2013

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