Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease)

Late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a rare lysosomal storage disorder caused by a monogenetic deficiency of tripeptidyl peptidase-1 (TPP1). Despite knowledge that lipofuscin is the hallmark disease product, the relevant TPP1 substrate and its role in neuronal physiology/p...

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Publicado no:Sci Rep
Main Authors: Sindelar, Miriam, Dyke, Jonathan P., Deeb, Ruba S., Sondhi, Dolan, Kaminsky, Stephen M., Kosofsky, Barry E., Ballon, Douglas J., Crystal, Ronald G., Gross, Steven S.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6189193/
https://ncbi.nlm.nih.gov/pubmed/30323181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-33449-0
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