Changes in the activity of the enzyme aromatic l-amino acid decarboxylase (AADC) can be assessed through a high-resolution imaging technology…
Articles by Marisa Wexler, MS
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…
A broad range of diagnostic tools are available for diagnosing AADC deficiency and similar conditions. A recent review paper…
A genetic variant of DDC, the gene encoding L-aromatic amino acid decarboxylase (AADC), contributes to worse somatic symptoms…
In a new study, investigators characterized the molecular consequences of two particular variants in the aromatic amino acid or dopa…
A recent report reviewing the use of gene therapy for Taiwanese patients with aromatic l‐amino acid decarboxylase (AADC) deficiency…