Spectrum of Ocular Manifestations in CLN2-Associated Batten (Jansky-Bielschowsky) Disease Correlate with Advancing Age and Deteriorating Neurological Function

BACKGROUND: Late infantile neuronal ceroid lipofuscinosis (LINCL), one form of Batten’s disease is a progressive neurodegenerative disorder resulting from a CLN2 gene mutation. The spectrum of ophthalmic manifestations of LINCL and the relationship with neurological function has not been previously...

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Detalles Bibliográficos
Autores principales: Orlin, Anton, Sondhi, Dolan, Witmer, Matthew T., Wessel, Matthew M., Mezey, Jason G., Kaminsky, Stephen M., Hackett, Neil R., Yohay, Kaleb, Kosofsky, Barry, Souweidane, Mark M., Kaplitt, Michael G., D’Amico, Donald J., Crystal, Ronald G., Kiss, Szilárd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756041/
https://www.ncbi.nlm.nih.gov/pubmed/24015292
http://dx.doi.org/10.1371/journal.pone.0073128

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756041/
https://www.ncbi.nlm.nih.gov/pubmed/24015292
http://dx.doi.org/10.1371/journal.pone.0073128

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