NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls-Reference-Cited by-同舟云学术

NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls

Published:2017-07-24 Issue:1 Volume:7 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Probert Fay,Ruiz-Rodado Victor,Vruchte Danielle te,Nicoli Elena-Raluca,Claridge Tim D. W.^ORCID,Wassif Christopher A.,Farhat Nicole,Porter Forbes D.,Platt Frances M.,Grootveld Martin

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-017-06264-2.pdf

Reference45 articles.

1. Spiegel, R. et al. The clinical spectrum of fetal Niemann-Pick type C. Am. J. Med. Genet. A 149A, 446–450 (2009).

2. Lloyd-Evans, E. et al. Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat. Med. 14, 1247–1255 (2008).

3. Wassif, C. A. et al. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genet. Med. 18, 41–48 (2016).

4. Vanier, M. T. et al. Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review. Mol. Genet. Metab. 118, 244–254 (2016).

5. Vanier, M. T. & Latour, P. Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test. Methods Cell Biol. 126, 357–375 (2015).

Cited by 20 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. NMR-Onion - a transparent multi-model based 1D NMR deconvolution algorithm;Heliyon;2024-09

2. Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts;Genes;2023-10-25

3. MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C;Biomedicines;2023-09-23

4. The Niemann-Pick type diseases – A synopsis of inborn errors in sphingolipid and cholesterol metabolism;Progress in Lipid Research;2023-04

5. Association of plasma lipid metabolism profiles with overall survival for patients with gastric cancer undergoing gastrectomy based on 1H-NMR spectroscopy;Nutrition & Metabolism;2023-02-07