Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker

Lysosomal storage disorders (LSDs) occur at a frequency of 1 in every 5,000 live births and are a common cause of pediatric neurodegenerative disease. The relatively small number of patients with LSDs and lack of validated biomarkers are substantial challenges for clinical trial design. Here, we eva...

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Veröffentlicht in:	The Journal of clinical investigation 2014-03, Vol.124 (3), p.1320-1328
Hauptverfasser:	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, Beck, Michael, Amraoui, Yasmina, Imrie, Jackie, Jacklin, Elizabeth, Riddick, Kate, Yanjanin, Nicole M, Wassif, Christopher A, Rolfs, Arndt, Rimmele, Florian, Wright, Naomi, Taylor, Clare, Ramaswami, Uma, Cox, Timothy M, Hastings, Caroline, Jiang, Xuntian, Sidhu, Rohini, Ory, Daniel S, Arias, Begona, Jeyakumar, Mylvaganam, Sillence, Daniel J, Wraith, James E, Porter, Forbes D, Cortina-Borja, Mario, Platt, Frances M
Format:	Artikel
Sprache:	eng
Schlagworte:	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
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