Associated Papers
A computational study on structural and functional consequences of nsSNPs in human dopa decarboxylase.
Kumar SB et al.
Journal of Biomolecular Structure & Dynamics, 2025
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein.
Bisello G et al.
Journal of Inherited Metabolic Disease, 2025
An attenuated, adult case of AADC deficiency demonstrated by protein characterization.
Bisello G et al.
Molecular Genetics and Metabolism Reports, 2024
Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study.
Park JE et al.
Pediatric Research, 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
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
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders.
Passaretti M et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2022
Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency.
Di Carlo E et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences, 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
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
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?
Leuzzi V et al.
Jimd Reports, 2015
Successful Pregnancy in a Patient with L-Amino Acid Decarboxylase Deficiency: Therapeutic Management and Clinical Outcome.
Mastrangelo M et al.
Movement Disorders Clinical Practice, 0