GALC mutations in Chinese patients with late-onset Krabbe disease: a case report

GALC mutations in Chinese patients with late-onset Krabbe disease: a case report

Abstract Background Krabbe disease (also known as globoid cell leukodystrophy) cause by a deficiency of the enzyme β-galactocerebrosidase (galactosylceramidase, GALC). The deficiency of GALC leads to accumulation of galactosylceramide and psychosine, the latter GALC substrate having a potential role...

Full description

Bibliographic Details
Main Authors: Shunzhi Zhuang, Lingen Kong, Caiming Li, Likun Chen, Tingting Zhang
Format: Article
Language:English
Published: BMC 2019-06-01
Series:BMC Neurology
Subjects:
Krabbe disease
Late-onset
Galactocerebrosidase
GALC gene
Brain MRI
Online Access:http://link.springer.com/article/10.1186/s12883-019-1345-z

Internet

http://link.springer.com/article/10.1186/s12883-019-1345-z

Similar Items