Oromandibular Dystonia is a Prominent Feature in Patients with Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency
Abstract Aromatic L-Amino acid decarboxylase (AADC) deficiency is a rare neurometabolic disorder due to a homozygous or compound heterozygous pathogenic variant of the DDC gene, resulting in low synthesis of the biogenic amines dopamine, serotonin, epinephrine, and norepinephrine. Most patients had...
Furkejuvvon:
| Váldodahkkit: | , , , |
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| Materiálatiipa: | Artigo |
| Giella: | Inglês |
| Almmustuhtton: |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
2023-09-01
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| Ráidu: | Journal of Inborn Errors of Metabolism and Screening |
| Fáttát: | |
| Liŋkkat: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942023000100305&tlng=en |
| Fáddágilkorat: |
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