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

    Published in:
    2014
    By:
    • 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
    Publication type:
    journal article

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

    Published in:
    Journal of Clinical Investigation, 2014, v. 124, n. 3, p. 1320, doi. 10.1172/JCI72835
    By:
    • 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
    Publication type:
    Article

  • Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.

    Published in:
    Human Molecular Genetics, 2021, v. 30, n. 24, p. 2456, doi. 10.1093/hmg/ddab194
    By:
    • Rodriguez-Gil, Jorge L.;
    • Baxter, Laura L.;
    • Watkins-Chow, Dawn E.;
    • Johnson, Nicholas L.;
    • Davidson, Cristin D.;
    • Carlson, Steven R.;
    • Incao, Arturo A.;
    • Wallom, Kerri L.;
    • Farhat, Nicole Y.;
    • Platt, Frances M.;
    • Dale, Ryan K.;
    • Porter, Forbes D.;
    • Pavan, William J.
    Publication type:
    Article