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
38193892 (PubMed )
Supplement: supplement_1.xlsx › S1
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein.
Bisello G et al.
Journal of Inherited Metabolic Disease, 2025
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
37466248 (PubMed )
Supplement: PRO-32-e4732-s002.docx
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
Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population.
Bisello G et al.
International Journal of Molecular Sciences, 2022
Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders.
Passaretti M et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2022
Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review.
Rizzi S et al.
Behavioural Neurology, 2022
36268467 (PubMed )
Supplement: 2210555.f1.zip › Suppl_table_1AAD.pdf
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
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
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins.
Longo C et al.
Molecular Genetics and Metabolism, 0
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