Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor in Sandhoff disease mice

od te Vruchte, Danielle, Jeans, Aruna, Platt, Frances M., Sillence, Daniel John
Wydane 2010

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

od Giese, Anne-Katrin, Mascher, Hermann, Grittner, Ulrike, Eichler, Sabrina, Kramp, Guido, Lukas, Jan, te Vruchte, Danielle, Al Eisa, Nada, Cortina-Borja, Mario, Porter, Forbes D, Platt, Frances M, Rolfs, Arndt
Wydane w Orphanet J Rare Dis (2015)

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann‐Pick C disease

od Mazzacuva, Francesca, Mills, Philippa, Mills, Kevin, Camuzeaux, Stephane, Gissen, Paul, Nicoli, Elena‐Raluca, Wassif, Christopher, te Vruchte, Danielle, Porter, Forbes D., Maekawa, Masamitsu, Mano, Nariyasu, Iida, Takashi, Platt, Frances, Clayton, Peter T.
Wydane w FEBS Lett (2016)

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

od Cortina-Borja, Mario, te Vruchte, Danielle, Mengel, Eugen, Amraoui, Yasmin, Imrie, Jackie, Jones, Simon A., i Dali, Christine, Fineran, Paul, Kirkegaard, Thomas, Runz, Heiko, Lachmann, Robin, Bremova-Ertl, Tatiana, Strupp, Michael, Platt, Frances M.
Wydane w Orphanet J Rare Dis (2018)

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

od Jiang, Xuntian, Sidhu, Rohini, Porter, Forbes D., Yanjanin, Nicole M., Speak, Anneliese O., te Vruchte, Danielle Taylor, Platt, Frances M., Fujiwara, Hideji, Scherrer, David E., Zhang, Jessie, Dietzen, Dennis J., Schaffer, Jean E., Ory, Daniel S.
Wydane 2011

A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency

od Tharkeshwar, Arun Kumar, Trekker, Jesse, Vermeire, Wendy, Pauwels, Jarne, Sannerud, Ragna, Priestman, David A., te Vruchte, Danielle, Vints, Katlijn, Baatsen, Pieter, Decuypere, Jean-Paul, Lu, Huiqi, Martin, Shaun, Vangheluwe, Peter, Swinnen, Johannes V., Lagae, Liesbet, Impens, Francis, Platt, Frances M., Gevaert, Kris, Annaert, Wim
Wydane w Sci Rep (2017)

Invariant Natural Killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C

od Speak, Anneliese O, Platt, Nicholas, Salio, Mariolina, te Vruchte, Danielle Taylor, Smith, David A, Shepherd, Dawn, Veerapen, Natacha, Besra, Gurdyal, Yanjanin, Nicole M., Simmons, Louise, Imrie, Jackie, Wraith, James E., Lachmann, Robin, Hartung, Ralf, Runz, Heiko, Mengel, Eugen, Beck, Michael, Hendriksz, Christian J, Porter, Forbes D, Cerundolo, Vincenzo, Platt, Frances M
Wydane 2012

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1

od Speak, Anneliese O., te Vruchte, Danielle, Davis, Lianne C., Morgan, Anthony J., Smith, David A., Yanjanin, Nicole M., Simmons, Louise, Hartung, Ralf, Runz, Heiko, Mengel, Eugen, Beck, Michael, Imrie, Jackie, Jacklin, Elizabeth, Wraith, James E., Hendriksz, Christian, Lachmann, Robin, Cognet, Celine, Sidhu, Rohini, Fujiwara, Hideji, Ory, Daniel S., Galione, Antony, Porter, Forbes D., Vivier, Eric, Platt, Frances M.
Wydane 2014

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

od 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.
Wydane 2014