Danielle Te Vruchte

Oxford, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 13 publications

Brain-Directed AAV Gene Therapy Rescues a Mouse Model of the CLN5 Form of Neuronal Ceroid Lipofuscinosis Disease and Normalizes a Blood Plasma Biomarker of Neurodegeneration.

Brain-Directed AAV Gene Therapy Rescues a Mouse Model of the CLN5 Form of Neuronal Ceroid Lipofuscinosis Disease and Normalizes a Blood Plasma Biomarker of Neurodegeneration.

Journal: Human gene therapy

Published: December 29, 2025

Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy.

Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy.

Journal: bioRxiv : the preprint server for biology

Published: September 02, 2025

Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.

Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.

Journal: Orphanet journal of rare diseases

Published: November 18, 2024

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

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

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: February 27, 2022

Glycosphingolipid metabolism and its role in ageing and Parkinson's disease.

Glycosphingolipid metabolism and its role in ageing and Parkinson's disease.

Journal: Glycoconjugate journal

Published: June 09, 2021

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

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

Journal: Orphanet journal of rare diseases

Published: July 05, 2018

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

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

Journal: Scientific reports

Published: August 24, 2016

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

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

Journal: FEBS letters

Published: April 11, 2016

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.

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: Journal of pharmaceutical and biomedical analysis

Published: April 18, 2015

Measuring relative lysosomal volume for monitoring lysosomal storage diseases.

Measuring relative lysosomal volume for monitoring lysosomal storage diseases.

Journal: Methods in cell biology

Published: February 11, 2015

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

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

Journal: Orphanet journal of rare diseases

Published: January 09, 2015

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

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

Journal: Blood

Published: November 16, 2013

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Last Updated: 09/26/2026