Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency Latest Advances
Find the Latest Research About Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency
Last Updated: 09/26/2026
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Found 149 publications
Mild form of aromatic L-amino acid decarboxylase deficiency.
Journal: BMJ case reports
Published: August 26, 2026
Structural and functional insights into aromatic amino acid decarboxylase deficiency variants producing an α-synuclein-targeting L-Dopa-pyridoxal 5'-phosphate cyclic adduct.
Journal: International journal of biological macromolecules
Published: April 28, 2026
Molecular heterogeneity in AADC deficiency: Variant-dependent effects on AADC activity.
Journal: Molecular genetics and metabolism
Published: April 15, 2026
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.
Journal: Journal of inherited metabolic disease
Published: August 15, 2025
Eladocagene Exuparvovec for the Treatment of Aromatic L-Amino Acid Decarboxylase Deficiency (AADCd): An Economic Evaluation from a US Perspective.
Journal: PharmacoEconomics
Published: April 17, 2025
Frameless intraputaminal delivery of gene therapy with eladocagene exuparvovec in patients with aromatic L-amino acid decarboxylase deficiency: safe and efficient results.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: April 01, 2025
Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India.
Journal: Brain & development
Published: February 27, 2025
The value of CSF neurotransmitter monitoring in the outcome of gene therapy in aromatic amino acid decarboxylase (AADC) defect.
Journal: Parkinsonism & related disorders
Published: January 28, 2025
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.
Journal: Genetic testing and molecular biomarkers
Published: January 22, 2025
The CRISPR-Cas9 knockout DDC SH-SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross-sectional structural and functional analysis.
Journal: The FEBS journal
Published: January 07, 2025
Case Series of Anesthetic Management of Gene Therapy in Children With Aromatic L-Amino Acid Decarboxylase Deficiency.
Journal: Paediatric anaesthesia
Published: September 30, 2024
Last Updated: 09/26/2026