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1 . Academic Journal
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials
저자
by
Mario Cortina-Borja
;
Danielle te Vruchte
;
Eugen Mengel
;
Yasmin Amraoui
;
Jackie Imrie
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-16 (2018)
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7 . Academic Journal
NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls
저자
by
Fay Probert
;
Victor Ruiz-Rodado
;
Danielle te Vruchte
;
Elena-Raluca Nicoli
;
Tim D. W. Claridge
, et al.
소스
Scientific Reports, Vol 7, Iss 1, Pp 1-12 (2017)
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7 . Academic Journal
Treatment with miglustat reverses the lipid-trafficking defect in Niemann–Pick disease type C
저자
by
Robin H Lachmann
;
Danielle te Vruchte
;
Emyr Lloyd-Evans
;
Gabriele Reinkensmeier
;
Daniel J Sillence
, et al.
소스
Neurobiology of Disease, Vol 16, Iss 3, Pp 654-658 (2004)
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7 .
Glycosphingolipid Changes in Plasma in Parkinson's Disease Independent of Glucosylceramide Levels
저자
by
Danielle te Vruchte
;
Andrea Sturchio
;
David A. Priestman
;
Panagiota Tsitsi
;
Ellen Hertz
, et al.
소스
Movement Disorders
. 37:2129-2134
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7 .
Glycosphingolipid metabolism and its role in ageing and Parkinson's disease
저자
by
Kerri-Lee Wallom
;
Mylene Huebecker
;
Frances M. Platt
;
Penelope J. Hallett
;
Danielle te Vruchte
, et al.
소스
Glycoconjugate journal
. 39(1)
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7 .
Analysis of glycosphingolipids from human plasma v1
저자
by
David A Priestman
;
Danielle te Vruchte
;
Kerri-Lee Wallom
;
María E Fernández-Suárez
;
Maria Leondaraki
, et al.
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7 .
Effects of N-Acetyl-Leucine and its enantiomers in Niemann-Pick disease type C cells
저자
by
Danielle te Vruchte
;
Michiko Mann
;
Michael Strupp
;
Anthony Galione
.
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6 .
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann‐Pick C disease
저자
by
Takashi Iida
;
Francesca Mazzacuva
;
Nariyasu Mano
;
Philippa B. Mills
;
Stephane Camuzeaux
, et al.
소스
Febs Letters
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7 .
NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls
저자
by
Frances M. Platt
;
Elena-Raluca Nicoli
;
Forbes D. Porter
;
Martin Grootveld
;
Victor Ruiz-Rodado
, et al.
소스
Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-12 (2017)
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7 .
A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency
저자
by
Frances M. Platt
;
Arun Kumar Tharkeshwar
;
Johannes V. Swinnen
;
Danielle te Vruchte
;
Shaun Martin
, et al.
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Scientific Reports
SCIENTIFIC REPORTS
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