Publication: Aromatic L-amino acid decarboxylase deficiency (AADC): Molecular and metabolic basis and therapeutic outlook
This review article, published in the Molecular Genetics and Metabolism journal, outlines hallmark symptoms of AADC deficiency and discusses recommended diagnostic tests, current strategies for management, and potential new treatment options under investigation for AADC deficiency
An overview of the historical background and epidemiology of AADC deficiency and the importance of AADC in neurologic function is discussed
Review the wide range of clinical presentations observed and reported in the literature and understand the genetic and molecular basis of disease manifestation
Understand the current management of AADC deficiency including pharmacological therapies considered first-line and the outlook of a gene therapy under investigation for AADC deficiency
Himmelreich N, Montioli RM, Bertoldi M, et al. Mol Genet Metab. 2019;127(1):12–22
Once registered, you will be able to view the abstract and be provided the DOI and PubMed links for this publication.
Register now to unlock the content
Register now to access the content on this page
If not, register below
GL-AADC-0700 | June 2021
Sign in or register to access exclusive content on this site
Some cookies are essential, others help us improve your experience by providing insights into how the website is used. Select one or more of the cookie types listed below, and then save your preferences. Refer to our Cookies Statement for more information.
Performance cookies, which help us measure the website’s performance and improve your experience. In using performance cookies we do not store any personal data, and only use the information collected through these cookies in aggregated and anonymised form.