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Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases
Lysosomal storage diseases are inherited metabolic disorders caused by genetic defects causing deficiency of various lysosomal proteins, and resultant accumulation of non-degraded compounds. They are multisystemic diseases, and in most of them (>70 %) severe brain dysfunctions are evident. Howeve...
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| Główni autorzy: | , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Springer US
2013
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3930848/ https://ncbi.nlm.nih.gov/pubmed/24307179 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11011-013-9455-6 |
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