Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area
Author:
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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1. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes;Molecular Genetics and Metabolism;2023-08
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