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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Detalhes bibliográficos
Main Authors: Guerreiro, Rita, Bras, Jose T., Vieira, Mariana, Warrier, Varun, Agrawal, Shakti, Stewart, Helen, Anderson, Glenn, Mole, Sara E.
Formato: Artigo
Idioma:Inglês
Publicado em: Saunders 2013
Assuntos:
Case Study
Acesso em linha: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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