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
Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl
Yoldaş Çelik M et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
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
Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
Abukhaled M et al.
European Journal of Pediatrics, 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
Oculogyric crisis mimicked epilepsy in a Chinese aromatic L-amino acid decarboxylase-deficiency patient: A case report.
Wang H et al.
Frontiers in Neurology, 2022
Case report: Aromatic L-amino acid decarboxylase deficiency in three patient cases from the Kingdom of Saudi Arabia.
Abukhaled M et al.
Frontiers in Pediatrics, 2022
Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
Montioli R et al.
International Journal of Molecular Sciences, 2021
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Tristán-Noguero A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
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
A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications.
Montioli R et al.
Human Molecular Genetics, 2014
Biochemical and computational approaches to improve the clinical treatment of dopa decarboxylase-related diseases: an overview.
Cellini B et al.
The Open Biochemistry Journal, 2012
Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency.
Montioli R et al.
Journal of Inherited Metabolic Disease, 2011
Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up.
Manegold C et al.
Journal of Inherited Metabolic Disease, 2009
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