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Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene

BACKGROUND: Reversible splenial lesion syndrome (RESLES) is a clinico-radiological syndrome characterized by the presence of reversible lesions specifically involving the splenium of the corpus callosum (SCC). The cause of RESLES is unknown. However, infectious-related mild encephalitis/encephalopat...

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Publicat a:Orphanet J Rare Dis
Autors principals: Yang, Jing, Han, Fei, Chen, Qianlong, Zhu, Tienan, Zhao, Yongqiang, Yu, Xuezhong, Zhu, Huadong, Cao, Jian, Li, Xiaoqing
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7168860/
https://ncbi.nlm.nih.gov/pubmed/32306994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01375-y
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