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 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
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
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
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
36833190 (PubMed )
Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › DDC_Short_Variant_Pathogenetic
Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients.
Spitz MA et al.
Jimd Reports, 2017
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
Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox.
Wassenberg T et al.
Molecular Genetics and Metabolism, 2010
Unusually mild phenotype of AADC deficiency in 2 siblings.
Tay SK et al.
Molecular Genetics and Metabolism, 2007
Select a paper to view details