Screening genomic databases for disease-causing mutations could help identify people with possible aromatic l-amino acid decarboxylase (AADC) deficiency or…
Articles by Marisa Wexler, MS
The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of…
A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like…
Massachusetts is holding its first-ever AADC Deficiency Awareness Day on Oct. 23, according to a press release from…
Changes in the activity of the enzyme aromatic l-amino acid decarboxylase (AADC)Â can be assessed through a high-resolution imaging technology…
Two previously unknown gene mutations that cause aromatic L-amino acid decarboxylase (AADC) deficiency have been identified in two siblings…
A range of disease presentations, and of underlying genotypes, were observed in a study of aromatic l-amino acid decarboxylase (AADC)…
Mutations discovered in the past five years that cause aromatic amino acid decarboxylase (AADC) deficiency affect the functioning of the…
A new technique using dried blood spots could help in the diagnosis of aromatic L-amino-acid decarboxylase (AADC) deficiency and…
PTC Therapeutics has launched a program to deliver — at no cost — blood tests that can help diagnose…