Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis

Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary disorder characterized by the accumulation of sulfatide in the central and peripheral nervous systems. Herein, we present the case of an adult patient with MLD who had mild cognitive and psychiatric dysfunctions and severe visio...

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Detalles Bibliográficos
Autores principales: Xu, Lulu, Zhong, Meixiang, Wang, Yajuan, Wang, Zhihong, Song, Jie, Zhao, Jing, Yu, Hongyun, Yang, Zhencui, Yan, Wenjing, Zheng, Xueping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7830158/
https://www.ncbi.nlm.nih.gov/pubmed/33505345
http://dx.doi.org/10.3389/fneur.2020.576881

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7830158/
https://www.ncbi.nlm.nih.gov/pubmed/33505345
http://dx.doi.org/10.3389/fneur.2020.576881

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