Rapid and inexpensive bedside diagnosis of RAN binding protein 2-associated acute necrotizing encephalopathy

Acute necrotizing encephalopathy 1 (ANE1) is a very rare disorder associated with a dominant heterozygous mutation in the RANBP2 (RAN binding protein 2) gene. ANE1 is frequently triggered by a febrile infection and characterized by serious and irreversible neurological damage. Although only a few hu...

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Detalles Bibliográficos
Autores principales: Gouy, Benoît, Decorsière, Adrien, Desgraupes, Sophie, Duan, Wenming, Ouyang, Hong, Wang, Yifan E., Yeh, E. Ann, Palazzo, Alexander F., Moraes, Theo J., Nisole, Sébastien, Arhel, Nathalie J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10690583/
https://www.ncbi.nlm.nih.gov/pubmed/38046586
http://dx.doi.org/10.3389/fneur.2023.1282059

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