Webinar: Utilization of urine organic acid analysis in the diagnostic workup of patients with aromatic L-amino acid decarboxylase (AADC) deficiency
Learn how to recognize and differentially diagnose AADC deficiency in children in this recording of a PTC Therapeutics live webinar from September 2020
Review the clinical presentation and history of three patients whose diagnostic workup aided in the diagnosis of AADC deficiency
Understand the basic indications and methodology for testing with urinary organic acid analysis as a supplementary tool for the diagnosis of inborn errors of metabolism (IEM), including AADC deficiency
Recognize the limitations of organic acid testing and variability in the concentrations of key metabolites
This is a recording of our live webinar ‘Utilisation of urine organic acid analysis in the diagnostic workup of patients with AADC deficiency’ and was sponsored by PTC Therapeutics.
This webinar recording has been chapterized to enable ease of viewing.
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