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Gaucher Disease: Insights from a Rare Mendelian Disorder
It has become increasingly clear that “simple” recessive disorders provide unique insight into the complexities of common diseases. For years, research on Gaucher disease, a rare inherited disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase, focused on its cell pathology...
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| Hovedforfatter: | |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2012
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4141347/ https://ncbi.nlm.nih.gov/pubmed/23114583 |
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