Novel GALC Mutations Cause Adult-Onset Krabbe Disease With Myelopathy in Two Chinese Families: Case Reports and Literature Review

Krabbe disease (KD), also referred to as globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by β-galactocerebrosidase (GALC) deficiency. Most patients affected by this disease are infants, and <10% of cases suffer from adult-onset KD. In this study, two C...

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Detalles Bibliográficos
Autores principales: Zhong, Junfei, Jiang, Fei, Yang, Huan, Li, Jing, Cheng, Jian, Zeng, Qiuming, Xu, Qian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7473299/
https://www.ncbi.nlm.nih.gov/pubmed/32973651
http://dx.doi.org/10.3389/fneur.2020.00830

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7473299/
https://www.ncbi.nlm.nih.gov/pubmed/32973651
http://dx.doi.org/10.3389/fneur.2020.00830

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