Associated Papers
Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up.
Curry DJ et al.
Journal of Inherited Metabolic Disease, 2026
REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and In Silico Structural Modeling of One Index Case.
Strehle EM et al.
Genetic Testing and Molecular Biomarkers, 2025
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2023
Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: Implication in aromatic amino acid decarboxylase deficiency.
Bisello G et al.
Protein Science : a Publication of the Protein Society, 2023
37466248 (PubMed )
Supplement: PRO-32-e4732-s002.docx
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2023
Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
Abukhaled M et al.
European Journal of Pediatrics, 2023
Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
Montioli R et al.
International Journal of Molecular Sciences, 2021
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
Pearson TS et al.
Journal of Inherited Metabolic Disease, 2020
A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications.
Montioli R et al.
Human Molecular Genetics, 2014
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