Published in Sci Rep on July 24, 2017
HMDB: the Human Metabolome Database. Nucleic Acids Res (2007) 13.38
HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res (2008) 11.23
HMDB 3.0--The Human Metabolome Database in 2013. Nucleic Acids Res (2012) 9.21
The human serum metabolome. PLoS One (2011) 5.55
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med (2008) 3.86
Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med (2010) 3.42
High-throughput serum NMR metabonomics for cost-effective holistic studies on systemic metabolism. Analyst (2009) 2.49
Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. J Pediatr (1993) 2.32
A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma. J Lipid Res (2011) 1.76
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol (2013) 1.60
Effect of acute dietary standardization on the urinary, plasma, and salivary metabolomic profiles of healthy humans. Am J Clin Nutr (2006) 1.53
Use of relaxation-edited one-dimensional and two dimensional nuclear magnetic resonance spectroscopy to improve detection of small metabolites in blood plasma. Anal Biochem (2004) 1.51
A 1H NMR-based metabonomic study of urine and plasma samples obtained from healthy human subjects. J Pharm Biomed Anal (2003) 1.42
Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease. J Biol Chem (2003) 1.40
Spectral relative standard deviation: a practical benchmark in metabolomics. Analyst (2008) 1.30
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genet Med (2015) 1.22
Plasma amino-acid patterns in liver disease. Gut (1982) 1.19
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. J Lipid Res (2009) 1.12
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1. Hum Mol Genet (2012) 1.10
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling. J Lipid Res (2013) 1.07
Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage. J Lipid Res (2011) 1.07
Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. PLoS One (2012) 1.00
New insights into the pathophysiology of dyslipidemia in type 2 diabetes. Atherosclerosis (2015) 1.00
The clinical spectrum of fetal Niemann-Pick type C. Am J Med Genet A (2009) 0.95
1H NMR studies of human blood plasma. Assignment of resonances for lipoproteins. FEBS Lett (1987) 0.95
Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study. PLoS One (2014) 0.95
Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway. J Inherit Metab Dis (2010) 0.94
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker. J Clin Invest (2014) 0.92
Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test. Methods Cell Biol (2015) 0.92
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease. Orphanet J Rare Dis (2015) 0.91
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. Steroids (2013) 0.88
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease. FEBS Lett (2016) 0.87
Evaluation of standard and advanced preprocessing methods for the univariate analysis of blood serum 1H-NMR spectra. Anal Bioanal Chem (2010) 0.85
Abnormalities in lipoprotein metabolism in Gaucher type 1 disease. Metabolism (1988) 0.84
Pre-symptomatic activation of antioxidant responses and alterations in glucose and pyruvate metabolism in Niemann-Pick Type C1-deficient murine brain. PLoS One (2013) 0.82
Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease. PLoS One (2016) 0.82
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review. Mol Genet Metab (2016) 0.81
Lipids, Lipoproteins, and Cardiovascular Disease: Clinical Pharmacology Now and in the Future. J Clin Endocrinol Metab (2016) 0.80
Changes in the atherogenic profile of patients with type 1 Gaucher disease after miglustat therapy. Atherosclerosis (2009) 0.78
1H NMR investigations of the molecular nature of low-molecular-mass calcium ions in biofluids. J Biol Inorg Chem (2001) 0.77
Fasting and nonfasting triglycerides in cardiovascular and other diseases. Physiol Res (2015) 0.77
¹H NMR metabolic profiling of plasma reveals additional phenotypes in knockout mouse models. J Proteome Res (2015) 0.76
(1)H NMR-Linked Metabolomics Analysis of Liver from a Mouse Model of NP-C1 Disease. J Proteome Res (2016) 0.76
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genet Med (2015) 1.22
Expression of Ca²⁺-permeable two-pore channels rescues NAADP signalling in TPC-deficient cells. EMBO J (2015) 1.09
RIPK3 as a potential therapeutic target for Gaucher's disease. Nat Med (2014) 1.08
Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease. Exp Neurol (2014) 0.89
Amyotrophic lateral sclerosis and denervation alter sphingolipids and up-regulate glucosylceramide synthase. Hum Mol Genet (2015) 0.78
Immune dysfunction in Niemann-Pick disease type C. J Neurochem (2015) 0.78
Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathway. Wellcome Open Res (2016) 0.75
Inhibition of β-Glucocerebrosidase Activity Preserves Motor Unit Integrity in a Mouse Model of Amyotrophic Lateral Sclerosis. Sci Rep (2017) 0.75
NOAH - NMR Supersequences for Small Molecule Analysis and Structure Elucidation. Angew Chem Int Ed Engl (2017) 0.75
Measuring relative lysosomal volume for monitoring lysosomal storage diseases. Methods Cell Biol (2015) 0.75
Monitoring the Disassembly of Virus-like Particles by (19)F-NMR. J Am Chem Soc (2017) 0.75
Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease. JIMD Rep (2017) 0.75
Polyyne [3]Rotaxanes: Synthesis via Dicobalt Carbonyl Complexes and Enhanced Stability. Angew Chem Int Ed Engl (2022) 0.75
Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression. Sci Rep (2022) 0.75
Mechanistic Studies on a Cu-Catalyzed Asymmetric Allylic Alkylation with Cyclic Racemic Starting Materials. J Am Chem Soc (2017) 0.75