Danielle te Vruchte

发表

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

Anneliese O. Speak, A. Speak, D. Ory, 2011, Journal of Lipid Research.

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

Anneliese O. Speak, A. Speak, H. Runz, 2014, The Journal of clinical investigation.

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

S. Eichler, A. Rolfs, A. Giese, 2015, Orphanet Journal of Rare Diseases.

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

Anneliese O. Speak, A. Speak, A. Galione, 2014, Blood.

Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann‐Pick disease type C

Anneliese O. Speak, A. Speak, G. Besra, 2012, European journal of immunology.

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

K. Mills, P. Clayton, N. Mano, 2016, FEBS letters.

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

M. Strupp, H. Runz, R. Lachmann, 2018, Orphanet Journal of Rare Diseases.

Urinary excretion and metabolism of miglustat and valproate in patients with Niemann-Pick type C1 disease: One- and two-dimensional solution-state (1)H NMR studies.

R. Lachmann, F. Platt, T. Claridge, 2016, Journal of pharmaceutical and biomedical analysis.

Effects of N-Acetyl-Leucine and its enantiomers in Niemann-Pick disease type C cells

M. Strupp, Danielle te Vruchte, A. Galione, 2019, bioRxiv.