Researchers say childhood epilepsy and mild attention deficits were effectively “hiding” a case of mild aromatic l-amino acid decarboxylase…
Articles by Marisa Horak, MS
Most people with rare diseases given an experimental therapy through compassionate use programs show clinical benefits, and most of these…
Although AADC deficiency is characterized by low levels of signaling molecules in the brain that impair its normal function,…
PTC Therapeutics will meet with the U.S. Food and Drug Administration (FDA) in December to review the data the company…
The AADC enzyme can undergo a process called phosphorylation at a specific molecular site to increase its activity, a study…
A new artificial intelligence (AI) tool — OpenAI’s GPT application programming interface (API) — has been integrated into FindZebra,…
Most rare disease experts are in favor of using DNA sequencing to screen newborns for AADC deficiency and other…
Children with aromatic L-amino acid decarboxylase (AADC) deficiency are continuing to experience motor function gains up to 10 years…
The case of a girl with unexplained seizures in whom an epilepsy gene panel screening was the key toward a…
IndoUSrare, a U.S.-based humanitarian organization, is working to build international connections between scientists to accelerate research that aims to…