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Metabolic profiling reveals biochemical pathways and potential biomarkers associated with the pathogenesis of Krabbe disease

Krabbe disease (KD) is caused by mutations in the galactosylceramidase (GALC) gene, which encodes a lysosomal enzyme that degrades galactolipids, including galactosylceramide and galactosylsphingosine (psychosine). GALC deficiency results in progressive intracellular accumulation of psychosine, whic...

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Detalhes bibliográficos
Publicado no:J Neurosci Res
Main Authors: Weinstock, Nadav I., Wrabetz, Lawrence, Feltri, M. Laura, Shin, Daesung
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5027975/
https://ncbi.nlm.nih.gov/pubmed/27638595
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jnr.23789
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