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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Guerreiro, Rita, Bras, Jose T., Vieira, Mariana, Warrier, Varun, Agrawal, Shakti, Stewart, Helen, Anderson, Glenn, Mole, Sara E.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Saunders 2013
Pynciau:
Case Study
Mynediad Ar-lein: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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