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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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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2021
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| Acesso em linha: | 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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