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Evaluation of disease progression in INCL by MR spectroscopy
OBJECTIVE: Infantile neuronal ceroid lipofuscinosis (INCL) is a devastating neurodegenerative storage disease caused by palmitoyl-protein thioesterase-1 deficiency, which impairs degradation of palmitoylated proteins (constituents of ceroid) by lysosomal hydrolases. Consequent lysosomal ceroid accum...
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| Udgivet i: | Ann Clin Transl Neurol |
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| Main Authors: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
John Wiley & Sons, Ltd
2015
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4554441/ https://ncbi.nlm.nih.gov/pubmed/26339674 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.222 |
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