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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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Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: Gowda, Vykuntaraju K., Vegda, Hemadri, Nagarajan, Balamurugan B., Shivappa, Sanjay K.
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2021
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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