Contact information
Research groups
Danielle Taylor-te Vruchte
Research Assistant in Lysosomal Storage Diseases
Recent publications
-
Effects of N-Acetyl-Leucine and its enantiomers in Niemann-Pick disease type C cells
Journal article
TE VRUCHTE D. and TAYLOR-TE VRUCHTE D., (2025), ?
-
Plasma phosphorylated-tau217 is increased in Niemann-Pick disease type C.
Journal article
Gonzalez-Ortiz F. et al, (2024), Brain Commun, 6
-
Glycosphingolipid Changes in Plasma in Parkinson's Disease Independent of Glucosylceramide Levels.
Journal article
Te Vruchte D. et al, (2022), Mov Disord, 37, 2129 - 2134
-
Glycosphingolipid metabolism and its role in ageing and Parkinson's disease.
Journal article
Wallom K-L. et al, (2022), Glycoconj J, 39, 39 - 53
-
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.
Journal article
Cortina-Borja M. et al, (2018), Orphanet J Rare Dis, 13
-
NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls.
Journal article
Probert F. et al, (2017), Sci Rep, 7
-
A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency.
Journal article
Tharkeshwar AK. et al, (2017), Sci Rep, 7
-
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
Journal article
Mazzacuva F. et al, (2016), FEBS Lett, 590, 1651 - 1662
-
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.
Journal article
Probert F. et al, (2016), J Pharm Biomed Anal, 117, 276 - 288
-
One- and two-dimensional NMR investigations of the urinary excretion and metabolism of miglustat and valproate in patients with Niemann-Pick disease type C1
Journal article
Grootveld M. et al, (2016), MOLECULAR GENETICS AND METABOLISM, 117, S52 - S52