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.

Register now to unlock the content

Register now to access the content on this page

Already registered?
If not, register below

Registration
  • This Website is intended only for healthcare professionals (“Website“), is operated by PTC Therapeutics. (together with its affiliates “PTC”). In order to access the restricted content on this Website:

    *
    *
  • PTC will delete immediately the information provided if we cannot confirm you are a healthcare professional.
    Otherwise, in case of successful verification, PTC will retain the information provided for a period of two (2) years following your registration (i) only for the purposes of providing you access to this Website; and/or (ii) in case you signed up to receive PTC updates.

Providing your personal data and your consent is voluntary, and you have the right to withdraw your consent at any time, without giving any reasons. Please consult our Privacy Statement for more information on the processing of your personal data.
For any inquiry relating to the processing of your personal data or if you want to exercise your privacy related rights or withdraw your consent, you can contact PTC’s Privacy Office at: Dataprivacy@ptcbio.com.

You can unsubscribe from updates at any time when receiving an email from PTC.

US-AADC-0460 | April 2023
Sign in or register to access exclusive content on this site 
  REGISTER

Welcome to MEDhub

A website for healthcare professionals, provided by PTC Therapeutics

This educational website provides you with the latest scientific data and expert
insights on the diagnosis and management of a range of rare diseases across the neuromuscular system, central nervous system, and other areas

This content is protected. To view it please enter your email address below:

Register here to access the content on the site
US-CORP-0330 | July 2022

COMING SOON

The content you are trying to access is not currently available.

We will be updating the MEDhub site regularly to provide you with up-to-date, insightful expert-led content. To be notified when new additions become available, register now.