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Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis

Objectives: Aromatic amino acid decarboxylase deficiency presents with prominent extrapyramidal and autonomic features and CSF monoamine deficiency with increased 3-O-methyldopa, a by-product of accumulated L-DOPA. Less than 100 cases have been identified. The disease is typically associated with a...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Helman, Guy, Pappa, Maria Belen, Pearl, Phillip L.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4241195/
https://ncbi.nlm.nih.gov/pubmed/25001633
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_327
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