Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis

The Neuronal Ceroid Lipofuscinoses (NCLs) are a family of autosomal recessive neurodegenerative disorders that annually affect 1:100,000 live births worldwide. This family of diseases results from mutations in one of 14 different genes that share common clinical and pathological etiologies. Clinical...

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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Geraets, Ryan D., Koh, Seung yon, Hastings, Michelle L., Kielian, Tammy, Pearce, David A., Weimer, Jill M.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2016
Fag:
Review
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4833901/
https://ncbi.nlm.nih.gov/pubmed/27083890
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0414-2
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