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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Detalhes bibliográficos
Publicado no:Balkan J Med Genet
Main Authors: Vargiami, E, Papathanasiou, E, Batzios, S, Kyriazi, M, Dimitriou, E, Anastasiou, A, Michelakakis, H, Giese, A-K, Zafeiriou, DI
Formato: Artigo
Idioma:Inglês
Publicado em: De Gruyter 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5026284/
https://ncbi.nlm.nih.gov/pubmed/27785412
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1515/bjmg-2016-0011
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