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Oculogyric crisis mimicked epilepsy in a Chinese aromatic L-amino acid decarboxylase-deficiency patient: A case report

BACKGROUND: Aromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorder with heterogeneous phenotype, including hypotonia, movement disorders, autonomic dysfunction, and developmental delay. Here, we reported a Chinese patient with AADCD who was initial...

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Detalles Bibliográficos
Autores principales: Wang, Hongmei, Li, Jiahong, Zhou, Ji, Dai, Lifang, Ding, Changhong, Li, Mo, Feng, Weixing, Fang, Fang, Ren, Xiaotun, Wang, Xiaohui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9481412/
https://www.ncbi.nlm.nih.gov/pubmed/36119679
http://dx.doi.org/10.3389/fneur.2022.919583