Associated Papers
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein.
Bisello G et al.
Journal of Inherited Metabolic Disease, 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.
Strehle EM et al.
Genetic Testing and Molecular Biomarkers, 2025
Aromatic l-amino acid decarboxylase deficiency in Taiwan.
Hwu WL et al.
Jimd Reports, 2023
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
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
Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry.
Civallero G et al.
Molecular Genetics and Metabolism Reports, 2022
Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons.
Pearson TS et al.
Nature Communications, 2021
Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases.
Kubaski F et al.
Molecular Genetics and Metabolism Reports, 2021
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
The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China.
Wen Y et al.
Journal of Human Genetics, 2020
High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.
Brennenstuhl H et al.
Journal of Inherited Metabolic Disease, 2020
Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
Hyland K et al.
Pediatric Neurology, 2020
New variants of AADC deficiency expand the knowledge of enzymatic phenotypes.
Montioli R et al.
Archives of Biochemistry and Biophysics, 2020
Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview.
Dai W et al.
Molecular Genetics & Genomic Medicine, 2020
Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan.
Hwu WL et al.
Jimd Reports, 2018
Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial.
Chien YH et al.
The Lancet. Child & Adolescent Health, 2017