Daniëlle te Vruchte
University of Oxford(GB)Research Network (United States)(US)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Cellular transport and secretion, Calcium signaling and nucleotide metabolism, Neonatal and fetal brain pathology, Autoimmune and Inflammatory Disorders Research
Most-Cited Works
- → The imprinted antisense RNA at the Igf2r locus overlaps but does not imprint Mas1(2000)282 cited
- → Accumulation of Glycosphingolipids in Niemann-Pick C Disease Disrupts Endosomal Transport(2004)195 cited
- → Treatment with miglustat reverses the lipid-trafficking defect in Niemann–Pick disease type C(2004)154 cited
- → A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease(2015)130 cited
- → A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency(2017)122 cited
- → Identification of novel bile acids as biomarkers for the early diagnosis of Niemann‐Pick C disease(2016)99 cited
- → Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker