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CLN6 disease caused by the same mutation originating in Pakistan has varying pathology
The neuronal ceroid lipofuscinoses (NCLs), the most common neurodegenerative diseases in children, are characterised by storage of autofluorescent material that has a characteristic ultrastructure. We report two families with variant late infantile NCL, both originating from Pakistan. Probands from...
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| Hoofdauteurs: | , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Saunders
2013
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3847240/ https://ncbi.nlm.nih.gov/pubmed/23735787 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejpn.2013.04.011 |
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