Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1
Niamh X. Cawley, Spencer Giddens, Nicole M. Farhat, Rachel Luke, Katelin E. J. Scott, Hibaaq O. Mohamed, An Dang, Elizabeth Berry‐Kravis, Stephanie M. Cologna, Fang Liu, Forbes D. Porter
Topics & Concepts
NPC1Niemann–Pick disease, type CBiomarkerAtaxiaCerebrospinal fluidPhenotypeMedicineDiseasePathologicalUbiquitinImmunologyPathologyInternal medicineBiologyGeneticsGenePsychiatryReceptorEndosomeLysosomal Storage Disorders ResearchTrypanosoma species research and implicationsGlycogen Storage Diseases and Myoclonus