Glycosphingolipid Changes in Plasma in Parkinson's Disease Independent of Glucosylceramide Levels

por te Vruchte, Danielle, Sturchio, Andrea, Priestman, David A., Tsitsi, Panagiota, Hertz, Ellen, Andréasson, Mattias, Markaki, Ioanna, Wallom, Kerri‐Lee, Platt, Frances, Svenningsson, Per
Publicado 2022

Glycosphingolipid metabolism and its role in ageing and Parkinson’s disease

por Wallom, Kerri-Lee, Fernández-Suárez, María E., Priestman, David A., te Vruchte, Danielle, Huebecker, Mylene, Hallett, Penelope J., Isacson, Ole, Platt, Frances M.
Publicado 2021

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

por 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
Publicado 2015

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

por 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.
Publicado 2016

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

por 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.
Publicado 2018

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

por 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
Publicado 2017