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Pathogenesis and Therapies for Infantile Neuronal Ceroid Lipofuscinosis (infantile CLN1 disease)

The Neuronal Ceroid Lipofuscinoses (NCL, Batten Disease) are a group of inherited neurodegenerative diseases. Infantile Neuronal Ceroid lipofuscinosis (INCL, Infantile Batten Disease, or infantile CLN1 disease) is caused by a deficiency in the soluble lysosomal enzyme palmitoyl protein thioesterase-...

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Bibliografiske detaljer
Udgivet i:Biochim Biophys Acta
Main Authors: Hawkins-Salsbury, Jacqueline A., Cooper, Jonathan D., Sands, Mark S.
Format: Artigo
Sprog:Inglês
Udgivet: 2013
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4573397/
https://ncbi.nlm.nih.gov/pubmed/23747979
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2013.05.026
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