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...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2019-06-01
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Series: | BMC Neurology |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12883-019-1345-z |