Glycosphingolipid analysis in a naturally occurring ovine model of acute neuronopathic Gaucher disease
Gaucher disease arises from mutations in the β-glucocerebrosidase gene which encodes an enzyme required for the lysosomal catabolism of glucosylceramide. We have identified a naturally occurring mutation in the β-glucocerebrosidase gene in sheep that leads to Gaucher disease with acute neurological...
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| Hoofdauteurs: | , , , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Elsevier
2016-07-01
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| Reeks: | Neurobiology of Disease |
| Onderwerpen: | |
| Online toegang: | http://www.sciencedirect.com/science/article/pii/S0969996116300547 |
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