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
Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises: A case report.
Thys L et al.
Heliyon, 2024
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
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
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
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?
Leuzzi V et al.
Jimd Reports, 2015
Successful Pregnancy in a Patient with L-Amino Acid Decarboxylase Deficiency: Therapeutic Management and Clinical Outcome.
Mastrangelo M et al.
Movement Disorders Clinical Practice, 0
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