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Last Updated: 04/25/2025
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Found 142 publications
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
Case Series of Anesthetic Management of Gene Therapy in Children With Aromatic L-Amino Acid Decarboxylase Deficiency.
Journal: Paediatric anaesthesia
Published: September 30, 2024
Estimating health state utilities for aromatic L-amino acid decarboxylase deficiency (AADCd) in the United States.
Journal: Health and quality of life outcomes
Published: August 01, 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
Adult-onset focal hand dystonia in aromatic L-amino acid decarboxylase deficiency.
Journal: Parkinsonism & related disorders
Published: May 07, 2024
Optimizing the anesthetic care of patients with aromatic l-amino acid decarboxylase deficiency.
Journal: Paediatric anaesthesia
Published: March 19, 2024
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein.
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein.
Journal: Journal of inherited metabolic disease
Published: March 16, 2024
Gene therapy takes the fear out of severe AADC deficiency
Journal: MMW Fortschritte der Medizin
Published: February 20, 2024
Estimating the prevalence of ultra-rare inherited metabolic disorders: Aromatic amino acid decarboxylase (AADC) deficiency.
Journal: Molecular genetics and metabolism
Published: February 01, 2024
Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.
Journal: Molecular genetics and metabolism
Published: December 16, 2023
Last Updated: 04/25/2025