All publications

Browse selected scientific articles published in peer-reviewed international and interdisciplinary journals to gain insights into the clinical presentation, and genetic and molecular basis of aromatic L-amino acid decarboxylase (AADC) deficiency

Please select the publication review of interest below:

This original study article, published in the Journal of Chromatography B, outlines a study to establish a reliable method to assess both 5-hydroxytryptophan (5-HTP) and 3-O-methyldopa (3-OMD) in dried blood spot (DBS) analysis through ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS) technology, for the biochemical diagnosis of AADC deficiency
Year
Type
Topic

From systematic reviews to case reports, learn more about the pathophysiology and emerging strategies for the management of AADC deficiency

MED-ALL-AADC-2100474 | November 2021
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
GL-CORP-0207 | June 2021

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.