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Clinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy
Aromatic L-amino acid decarboxylase (AADC) deficiency is a disorder of neurotransmitter synthesis. It presents with psychomotor delay, dystonia, oculogyric crisis, and autonomic features. There is paucity of literature on this disorder. Hence, we are reporting this series with an objective to study...
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| Gepubliceerd in: | J Pediatr Genet |
|---|---|
| Hoofdauteurs: | , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Georg Thieme Verlag KG
2021
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| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8110350/ https://ncbi.nlm.nih.gov/pubmed/33996177 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0040-1714690 |
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