NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls
出版年份 2017 全文链接
标题
NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls
作者
关键词
-
出版物
Scientific Reports
Volume 7, Issue 1, Pages -
出版商
Springer Nature
发表日期
2017-07-18
DOI
10.1038/s41598-017-06264-2
参考文献
相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。- Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease
- (2016) Francesca Mazzacuva et al. FEBS LETTERS
- Lipids, Lipoproteins, and Cardiovascular Disease: Clinical Pharmacology Now and in the Future
- (2016) Alan Chait et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- 1H NMR-Linked Metabolomics Analysis of Liver from a Mouse Model of NP-C1 Disease
- (2016) Victor Ruiz-Rodado et al. JOURNAL OF PROTEOME RESEARCH
- Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review
- (2016) Marie T. Vanier et al. MOLECULAR GENETICS AND METABOLISM
- Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease
- (2016) André R. A. Marques et al. PLoS One
- New insights into the pathophysiology of dyslipidemia in type 2 diabetes
- (2015) Marja-Riitta Taskinen et al. ATHEROSCLEROSIS
- High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
- (2015) Christopher A. Wassif et al. GENETICS IN MEDICINE
- 1H NMR Metabolic Profiling of Plasma Reveals Additional Phenotypes in Knockout Mouse Models
- (2015) Fay Probert et al. JOURNAL OF PROTEOME RESEARCH
- A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease
- (2015) Anne-Katrin Giese et al. Orphanet Journal of Rare Diseases
- Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker
- (2014) Danielle te Vruchte et al. JOURNAL OF CLINICAL INVESTIGATION
- Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study
- (2014) Richard W. D. Welford et al. PLoS One
- Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease
- (2013) Donna L. Bernstein et al. JOURNAL OF HEPATOLOGY
- Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling
- (2013) Martin Fan et al. JOURNAL OF LIPID RESEARCH
- Pre-Symptomatic Activation of Antioxidant Responses and Alterations in Glucose and Pyruvate Metabolism in Niemann-Pick Type C1-Deficient Murine Brain
- (2013) Barry E. Kennedy et al. PLoS One
- LC/ESI-MS/MS analysis of urinary 3β-sulfooxy-7β-N-acetylglucosaminyl-5-cholen-24-oic acid and its amides: New biomarkers for the detection of Niemann–Pick type C disease
- (2013) Masamitsu Maekawa et al. STEROIDS
- Microarray expression analysis and identification of serum biomarkers for Niemann–Pick disease, type C1
- (2012) Celine V.M. Cluzeau et al. HUMAN MOLECULAR GENETICS
- HMDB 3.0—The Human Metabolome Database in 2013
- (2012) David S. Wishart et al. NUCLEIC ACIDS RESEARCH
- Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight
- (2012) Stephanie M. Cologna et al. PLoS One
- A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma
- (2011) Xuntian Jiang et al. JOURNAL OF LIPID RESEARCH
- Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage
- (2011) Carolina Tängemo et al. JOURNAL OF LIPID RESEARCH
- The Human Serum Metabolome
- (2011) Nikolaos Psychogios et al. PLoS One
- Evaluation of standard and advanced preprocessing methods for the univariate analysis of blood serum 1H-NMR spectra
- (2010) Tim De Meyer et al. ANALYTICAL AND BIOANALYTICAL CHEMISTRY
- Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway
- (2010) Ronald J. A. Wanders et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease
- (2010) F. D. Porter et al. Science Translational Medicine
- The clinical spectrum of fetal Niemann-Pick type C
- (2009) Ronen Spiegel et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- High-throughput serum NMR metabonomics for cost-effective holistic studies on systemic metabolism
- (2009) Pasi Soininen et al. ANALYST
- Changes in the atherogenic profile of patients with type 1 Gaucher disease after miglustat therapy
- (2009) J. Puzo et al. ATHEROSCLEROSIS
- The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes
- (2009) William S. Garver et al. JOURNAL OF LIPID RESEARCH
- Spectral relative standard deviation: a practical benchmark in metabolomics
- (2008) Helen M. Parsons et al. ANALYST
- Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium
- (2008) Emyr Lloyd-Evans et al. NATURE MEDICINE
- HMDB: a knowledgebase for the human metabolome
- (2008) D. S. Wishart et al. NUCLEIC ACIDS RESEARCH
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started