Article

The Novel P330L Pathogenic Variant of Aromatic Amino Acid Decarboxylase Maps on the Catalytic Flexible Loop Underlying its Crucial Role

2022-03-07

Abstract excerpt

<title>Abstract</title> <p>Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease, often fatal in the first decade, causing severe intellectual disability, movement disorders and autonomic disfunction. It is due to mutations in the gene coding for the AADC enzyme responsible for the synthesis of the important neurotransmitters dopamine, norepinephrine, epinephrine and serotonin. Using who...

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Literature Corpus work: ada71794-87b5-5cf4-aa84-1d5478a2ac3d
DOI: 10.21203/rs.3.rs-1395907/v1

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