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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2013
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3756041/
https://ncbi.nlm.nih.gov/pubmed/24015292
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0073128
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