Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports

Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports

Krabbe disease is an autosomal recessive neurodegenerative disorder due to a defect of the lysosomal enzyme β-galactocerebrosidase (β-GALC). Depending on the age of onset, the disease is classified into infantile and later-onset forms. We report neuroradiological, neurophysiological and molecular fi...

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Bibliographic Details
Main Authors: Vargiami E, Papathanasiou E, Batzios S, Kyriazi M, Dimitriou E, Anastasiou A, Michelakakis H, Giese A-K, Zafeiriou DI
Format: Article
Language:English
Published: Sciendo 2016-06-01
Series:Balkan Journal of Medical Genetics
Subjects:
β-galactocerebrosidase (β-galc)
galc gene
krabbe disease
leukodystrophy
mutation
nerve conduction velocity (ncv)
Online Access:https://doi.org/10.1515/bjmg-2016-0011

Internet

https://doi.org/10.1515/bjmg-2016-0011

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