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Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry
Aromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorder caused by mutations in the DDC gene, leading to a deficit of AADC, a pyridoxal 5′-phosphate requiring enzyme that catalyzes the decarboxylation of L-Dopa and L-5-hydroxytryptophan in dopamine a...
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| Udgivet i: | Int J Mol Sci |
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| Main Authors: | , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
MDPI
2021
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8003434/ https://ncbi.nlm.nih.gov/pubmed/33808712 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22063146 |
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