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MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis
BACKGROUND AND PURPOSE: Infantile neuronal ceroid lipofuscinosis 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...
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| I publikationen: | AJNR Am J Neuroradiol |
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| Huvudupphovsmän: | , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
American Society of Neuroradiology
2017
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5309144/ https://ncbi.nlm.nih.gov/pubmed/27765741 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3174/ajnr.A4978 |
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