Concepedia

Daniëlle te Vruchte

DT

16

Publications

1.3K

Citations

14

H-Index

2000

Active since

Affiliations

University of Oxford(Current)

University College London

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Hospital for Neurology and Neurosurgery

National Institutes of Health

Daniëlle te Vruchte is an author at University of Oxford specializing in medicine, pathology, and lysosomal storage disease.

ORCID

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Publications per year

2000–2024

16

Publications

16

The imprinted antisense RNA at the Igf2r locus overlaps but does not imprint Mas1

Robert Lyle, Daisuke Watanabe, Daniëlle te Vruchte et al. · Nature Genetics · 2000 · 282 citations

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Accumulation of Glycosphingolipids in Niemann-Pick C Disease Disrupts Endosomal Transport

Daniëlle te Vruchte, Emyr Lloyd‐Evans, Robert Jan Veldman et al. · Journal of Biological Chemistry · 2004 · 194 citations · Full text

Treatment with miglustat reverses the lipid-trafficking defect in Niemann–Pick disease type C

Robin Lachmann, Daniëlle te Vruchte, Emyr Lloyd‐Evans et al. · Neurobiology of Disease · 2004 · 154 citations · Full text

, , +2

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

Anne‐Katrin Giese, Hermann Mascher, Ulrike Grittner et al. · Orphanet Journal of Rare Diseases · 2015 · 126 citations · Full text

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

Arun Kumar Tharkeshwar, Jesse Trekker, Wendy Vermeire et al. · Scientific Reports · 2017 · 121 citations · Full text

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