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Biomarker Insights|October 10, 2022
Glycerophosphoinositol is Elevated in Blood Samples From CLN3 Δex7-8 pigs, Cln3 Δex7-8 Mice, and CLN3-Affected IndividualsJon J Brudvig, Vicki J Swier, Tyler B Johnson, et al.Journal of Neurodevelopmental Disorders|April 8, 2016
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an updateAudrey Thurm, Elaine Tierney, Cristan Farmer, et al.Scientific Reports|July 26, 2017
NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controlsFay Probert, Victor Ruiz-Rodado, Danielle Te Vruchte, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|January 14, 2017
FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblastsJason Newton, Nitai C Hait, Michael Maceyka, et al.Journal of Lipid Research|July 24, 2024
Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1Sonali Mishra, Pamela Kell, David Scherrer, et al.BMC Biology|October 1, 2021
A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1Anika V Prabhu, Insung Kang, Raffaella De Pace, et al.Development (Cambridge, England)|March 24, 2009
LIM homeobox transcription factors integrate signaling events that control three-dimensional limb patterning and growthItai Tzchori, Timothy F Day, Peter J Carolan, et al.Scientific Reports|February 10, 2022
Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expressionLaura L Baxter, Dawn E Watkins-Chow, Nicholas L Johnson, et al.Neurology|June 13, 2014
Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patientsJohn M Schreiber, Diane C Lanham, William H Trescher, et al.Genetics in Medicine Open|August 18, 2025
Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1Niamh X Cawley, Ruyu Zhou, Avani Mylvara, et al.Pageof 20