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
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
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
Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
Montioli R et al.
International Journal of Molecular Sciences, 2021
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
Unusually mild phenotype of AADC deficiency in 2 siblings.
Tay SK et al.
Molecular Genetics and Metabolism, 2007
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