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Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report
Krabbe disease (KD), also known as globoid cell leukodystrophy, is a rare autosomal recessive condition caused by mutations in the galactocerebrosidase (GALC) gene. KD is more common in infants and young children than in adults. We reported the case of an adult-onset KD presenting with progressive m...
Autores principales: | Wang, Yu, Wang, Su-yue, Li, Kai, Zhu, Yu-long, Xia, Kun, Sun, Dan-dan, Ai, Wen-long, Fu, Xiao-ming, Ye, Qun-rong, Li, Jun, Chen, Huai-zhen |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9633861/ https://www.ncbi.nlm.nih.gov/pubmed/36341094 http://dx.doi.org/10.3389/fneur.2022.1010150 |
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