Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker - te Vruchte, Danielle; Speak, Anneliese O.; Wallom, Kerri L.; Al Eisa, Nada; Smith, David A.; Hendriksz, Christian J.; Simmons, Louise; Lachmann, Robin H.; Cousins, Alison; Hartung, Ralf; Mengel, Eugen; Runz, Heiko; et al. (The Journal of clinical investigation, 2014)
Keywords: 1-Deoxynojirimycin - analogs & derivatives; 1-Deoxynojirimycin - therapeutic use; 2-Hydroxypropyl-beta-cyclodextrin; Age; Animals; B-Lymphocytes - pathology; beta-Cyclodextrins - therapeutic use; Biological markers; Biomarkers; Biomedical research; Blood & organ donations; Bone Marrow Transplantation; Care and treatment; Case-Control Studies; Child; Child, Preschool; Diagnosis; Disease; Epidemiology; Humans; Identification and classification; Immune system; Infant; Intracellular Signaling Peptides and Proteins; Lysosomes - pathology; Medical case management; Medical research; Medicine, Experimental; Metabolism, Inborn errors of; Mice; Mice, Inbred BALB C; Mice, Knockout; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C - pathology; Niemann-Pick Disease, Type C - therapy; Pediatrics; Prospective Studies; Proteins - genetics; Severity of Illness Index; Studies; Technical Advance; Treatment Outcome; University colleges