Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency Latest Advances
Find the Latest Research About Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency
Last Updated: 06/30/2026
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Found 149 publications
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
Intraparenchymal delivery of adeno-associated virus vectors for the gene therapy of neurological diseases.
Journal: Expert opinion on biological therapy
Published: July 27, 2024
Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) and correlation with Bayley-III scores and motor milestones.
Journal: Orphanet journal of rare diseases
Published: July 22, 2024
Nigrostriatal tract defects in mice with aromatic l-amino acid decarboxylase deficiency.
Journal: Neurobiology of disease
Published: July 21, 2024
Last Updated: 06/30/2026