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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2019, Volume 181, Issue 2, pp. 226 - 229
Aromatic l‐amino acid decarboxylase deficiency (AADCD) is a rare inherited disease prevalent in South East Asia. This disease is due to the founder mutation... 
clinical trial | splicing mutation | adeno‐associated virus | gene therapy | animal model | AADC deficiency | adeno-associated virus | Medicine, Experimental | Medical research | Amino acids | Biological products | Analysis | Phenotypes | Silicone resins | Acids | Medical services | Aromatic-L-amino-acid decarboxylase | Mutation | Gene therapy | Polydimethyl siloxanes | Patients | Hereditary diseases
Journal Article
Journal of Neurochemistry, ISSN 0022-3042, 07/2010, Volume 114, Issue 1, pp. 87 - 96
J. Neurochem. (2010) 114, 87–96. Pyridoxal 5′‐phosphate, the active form of vitamin B6, is an essential cofactor for multiple enzymes, including aromatic... 
PNPO deficiency | vitamin B6 | serotonin | dopamine | Parkinson’s disease | AADC deficiency | Dopamine | Parkinson's disease | Serotonin | Vitamin B | Phosphates | Amino acids | Neurotransmitters | Patients | Cells
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2017, Volume 12, Issue 1, p. 12
Journal Article
Archives of Biochemistry and Biophysics, ISSN 0003-9861, 03/2020, Volume 682, p. 108263
AADC deficiency is a rare genetic disease caused by mutations in the gene of aromatic amino acid decarboxylase, the pyridoxal 5′-phosphate dependent enzyme... 
AADC deficiency variants | Pyridoxal 5′-phosphate enzymes | Aromatic amino acid decarboxylase deficiency | Structure and function relationship | Enzymology | Protein chemistry
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 05/2019, Volume 127, Issue 1, pp. 12 - 22
Aromatic-l-amino acid decarboxylase (AADC) deficiency is an ultra-rare inherited autosomal recessive disorder characterized by sharply reduced synthesis of... 
Genetic diseases, inborn | Pyridoxal phosphate | Rare diseases | Genetic therapy | Neurotransmitters | Dopamine | MEDICINE, RESEARCH & EXPERIMENTAL | MANAGEMENT | AADC DEFICIENCY | MUTATION | DISEASE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Genetic diseases inborn | GENE-THERAPY | DOPA DECARBOXYLASE
Journal Article
Journal Article
Advances in Pharmacology, ISSN 1054-3589, 2013, Volume 68, pp. 273 - 284
Aromatic l-amino acid decarboxylase (AADC) is a homodimeric pyridoxal phosphate-dependent enzyme responsible for the syntheses of dopamine and serotonin.... 
Adeno-associated virus (AAV) | Neurotransmitter | Aromatic l-amino acid decarboxylase (AADC) | Mouse model | Dopamine | Gene therapy | Dependovirus - genetics | Genetic Therapy | Aromatic-L-Amino-Acid Decarboxylases - deficiency | Animals | Humans | Mice | Disease Models, Animal
Journal Article
Journal Article
BBA - Proteins and Proteomics, ISSN 1570-9639, 06/2016, Volume 1864, Issue 6, pp. 676 - 682
We report here a clinical case of a patient with a novel mutation (Arg347→Gly) in the gene encoding aromatic amino acid decarboxylase (AADC) that is associated... 
Pathogenic variant | Pyridoxal 5′-phosphate | Aromatic amino acid decarboxylase | AADC deficiency | Pyridoxal 5'-phosphate | Enzymes | Amino acids | Genetic aspects | Catalysis | Hydrogen | Analysis | Glycine
Journal Article
JOURNAL OF NEUROCHEMISTRY, ISSN 0022-3042, 07/2010, Volume 114, Issue 1, pp. 87 - 96
P>Pyridoxal 5'-phosphate, the active form of vitamin B-6, is an essential cofactor for multiple enzymes, including aromatic l-amino acid decarboxylase that... 
Parkinson's disease | PHOSPHORYLATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISORDERS | NEUROSCIENCES | AADC deficiency | PNPO deficiency | serotonin | vitamin B-6 | GENE | METABOLISM | OXIDASE | L-DOPA | TARDIVE-DYSKINESIA | MUTATIONS | HIGH-DOSE PYRIDOXINE | dopamine | PARKINSONS-DISEASE
Journal Article