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Journal of Lipid Research|April 27, 2011
A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasmaXuntian Jiang, Rohini Sidhu, Forbes D Porter, et al.Journal of Lipid Research|May 29, 2014
Development and validation of sensitive LC-MS/MS assays for quantification of HP-β-CD in human plasma and CSFHui Jiang, Rohini Sidhu, Hideji Fujiwara, et al.Plos One|November 13, 2012
Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insightStephanie M Cologna, Xiao-Sheng Jiang, Peter S Backlund, et al.JIMD Reports|November 18, 2020
Defective platelet function in Niemann-Pick disease type C1Oscar C W Chen, Alexandria Colaco, Lianne C Davis, et al.Human Molecular Genetics|June 27, 2014
Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1)Brett Tortelli, Hideji Fujiwara, Jessica H Bagel, et al.Biomarker Research|February 1, 2023
Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1Kiersten Campbell, Niamh X Cawley, Rachel Luke, et al.Molecular Genetics and Metabolism|May 20, 2026
Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 GangliosidosisPamela Kell, Sonali Mishra, Precilla D'Souza, et al.EMBO Reports|December 20, 2015
Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IVSoonhong Park, Malini Ahuja, Min Seuk Kim, et al.Molecular Genetics and Metabolism Reports|September 4, 2023
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiencySamar Rahhal, Cristan Farmer, Audrey Thurm, et al.Molecular Genetics and Metabolism Reports|December 6, 2023
Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency"Samar Rahhal, Cristan Farmer, Audrey Thurm, et al.Pageof 20