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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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| Publicado no: | J Neurosci Res |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| 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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