Associated Papers
Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up.
Curry DJ et al.
Journal of Inherited Metabolic Disease, 2026
Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview.
Tabolacci C et al.
Biomolecules, 2025
A computational study on structural and functional consequences of nsSNPs in human dopa decarboxylase.
Kumar SB et al.
Journal of Biomolecular Structure & Dynamics, 2025
REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and In Silico Structural Modeling of One Index Case.
Strehle EM et al.
Genetic Testing and Molecular Biomarkers, 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
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
Tokatly Latzer I et al.
Human Genetics, 2023
Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study.
Park JE et al.
Pediatric Research, 2023
Aromatic l-amino acid decarboxylase deficiency in Taiwan.
Hwu WL et al.
Jimd Reports, 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
Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.
Latzer IT et al.
Research Square, 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
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
Montioli R et al.
International Journal of Molecular Sciences, 2021
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L et al.
Orphanet Journal of Rare Diseases, 2020
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
Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
Hyland K et al.
Pediatric Neurology, 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 review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan.
Lee NC et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan.
Hwu WL et al.
Jimd Reports, 2018
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
Aromatic amino Acid decarboxylase deficiency not responding to pyridoxine and bromocriptine therapy: case report and review of response to treatment.
Alfadhel M et al.
Journal of Central Nervous System Disease, 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
Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction.
Kuo SJ et al.
Taiwanese Journal of Obstetrics & Gynecology, 2011
Aromatic L-amino acid decarboxylase deficiency in Taiwan.
Lee HF et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2009