Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1

Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1

Abstract Background Niemann-Pick disease, type C1 (NPC1) is an ultrarare, recessive, lethal, lysosomal disease characterized by progressive cerebellar ataxia and cognitive impairment. Although the NPC1 phenotype is heterogeneous with variable age of onset, classical NPC1 is a pediatric disorder. Cur...

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Bibliographic Details
Main Authors: Kiersten Campbell, Niamh X. Cawley, Rachel Luke, Katelin E. J. Scott, Nicholas Johnson, Nicole Y. Farhat, Derek Alexander, Christopher A. Wassif, Wenping Li, Stephanie M. Cologna, Elizabeth Berry-Kravis, An Dang Do, Ryan K. Dale, Forbes D. Porter
Format: Article
Language:English
Published: BMC 2023-01-01
Series:Biomarker Research
Subjects:
Niemann-Pick disease
Type C1
Proximal extension assay
Biomarkers
Cerebrospinal fluid
CCL18
Online Access:https://doi.org/10.1186/s40364-023-00448-x

Internet

https://doi.org/10.1186/s40364-023-00448-x

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