Published in JIMD Rep on July 11, 2014
Clinical Metabolomics: The New Metabolic Window for Inborn Errors of Metabolism Investigations in the Post-Genomic Era. Int J Mol Sci (2016) 0.81
Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders. JIMD Rep (2016) 0.77
Diagnostic Applications of Nuclear Magnetic Resonance-Based Urinary Metabolomics. Magn Reson Insights (2017) 0.76
Omics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism Investigations. Int J Mol Sci (2016) 0.76
Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007-2015. Indian J Endocrinol Metab (2016) 0.75
Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia. Iran J Child Neurol (2016) 0.75
New tools and approaches to newborn screening: ready to open Pandora's box? Cold Spring Harb Mol Case Stud (2017) 0.75
High-resolution 1H-NMR spectroscopy of blood plasma for metabolic studies. Clin Chem (1994) 3.08
Metabolic phenotyping in clinical and surgical environments. Nature (2012) 2.09
Evidence of different metabolic phenotypes in humans. Proc Natl Acad Sci U S A (2008) 2.06
Clinical approach to treatable inborn metabolic diseases: an introduction. J Inherit Metab Dis (2006) 1.63
A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing. Clin Biochem (2005) 1.61
Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolism. Ann Clin Biochem (2003) 1.42
The genetic tyrosinemias. Am J Med Genet C Semin Med Genet (2006) 1.37
Individual human phenotypes in metabolic space and time. J Proteome Res (2009) 1.29
750 MHz 1H NMR spectroscopy characterisation of the complex metabolic pattern of urine from patients with inborn errors of metabolism: 2-hydroxyglutaric aciduria and maple syrup urine disease. J Pharm Biomed Anal (1997) 1.22
LC-MS/MS progress in newborn screening. Clin Biochem (2010) 1.04
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism. NMR Biomed (2008) 1.01
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. Mol Genet Metab (2000) 1.00
Diagnosis and early management of inborn errors of metabolism presenting around the time of birth. Acta Paediatr (2006) 0.92
1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism. Clin Chem (1999) 0.91
Integration of external signaling pathways with the core transcriptional network in embryonic stem cells. Cell (2008) 28.29
IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype. Nature (2012) 8.66
Prevalence of knee symptoms and radiographic and symptomatic knee osteoarthritis in African Americans and Caucasians: the Johnston County Osteoarthritis Project. J Rheumatol (2007) 5.23
Biventricular pacing in patients with bradycardia and normal ejection fraction. N Engl J Med (2009) 4.17
Cyclophilin D deficiency attenuates mitochondrial and neuronal perturbation and ameliorates learning and memory in Alzheimer's disease. Nat Med (2008) 3.69
Sperm methylation profiles reveal features of epigenetic inheritance and evolution in primates. Cell (2011) 3.39
Summary recommendations for standardization and reporting of metabolic analyses. Nat Biotechnol (2005) 2.90
Dietary glycemic index and glycemic load, carbohydrate and fiber intake, and measures of insulin sensitivity, secretion, and adiposity in the Insulin Resistance Atherosclerosis Study. Diabetes Care (2005) 2.86
Sialidase fusion protein as a novel broad-spectrum inhibitor of influenza virus infection. Antimicrob Agents Chemother (2006) 2.69
Pharmacokinetic interactions between protease inhibitors and statins in HIV seronegative volunteers: ACTG Study A5047. AIDS (2002) 2.59
Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies. Nat Genet (2009) 2.51
FusionMap: detecting fusion genes from next-generation sequencing data at base-pair resolution. Bioinformatics (2011) 2.37
Dual multiple change-point model leads to more accurate recombination detection. Bioinformatics (2005) 2.31
MALT1 small molecule inhibitors specifically suppress ABC-DLBCL in vitro and in vivo. Cancer Cell (2012) 2.18
The tyrosine phosphatase PTPRD is a tumor suppressor that is frequently inactivated and mutated in glioblastoma and other human cancers. Proc Natl Acad Sci U S A (2009) 2.09
Evidence of different metabolic phenotypes in humans. Proc Natl Acad Sci U S A (2008) 2.06
Phase II study of eribulin mesylate, a halichondrin B analog, in patients with metastatic breast cancer previously treated with an anthracycline and a taxane. J Clin Oncol (2009) 2.05
High-resolution magic angle spinning MRS of breast cancer tissue. NMR Biomed (2002) 2.05
Phase II study of the halichondrin B analog eribulin mesylate in patients with locally advanced or metastatic breast cancer previously treated with an anthracycline, a taxane, and capecitabine. J Clin Oncol (2010) 2.03
Phase I study of eribulin mesylate administered once every 21 days in patients with advanced solid tumors. Clin Cancer Res (2009) 2.03
Induction of sarcomas by mutant IDH2. Genes Dev (2013) 2.02
DAS181, a novel sialidase fusion protein, protects mice from lethal avian influenza H5N1 virus infection. J Infect Dis (2007) 2.02
A phase I study of eribulin mesylate (E7389), a mechanistically novel inhibitor of microtubule dynamics, in patients with advanced solid malignancies. Clin Cancer Res (2009) 2.01
Spontaneous out-of-body experience in a child with refractory right temporoparietal epilepsy. J Neurosurg Pediatr (2014) 1.97
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Hemodynamic Study of Three Patterns of Flaps on Rats with a Novel Panoramic Photographing Technique Involved. Plast Reconstr Surg (2016) 1.91
Epigenetic resensitization to platinum in ovarian cancer. Cancer Res (2012) 1.88
Rewirable gene regulatory networks in the preimplantation embryonic development of three mammalian species. Genome Res (2010) 1.81
Prevalence of hip symptoms and radiographic and symptomatic hip osteoarthritis in African Americans and Caucasians: the Johnston County Osteoarthritis Project. J Rheumatol (2009) 1.75
RAGE-mediated signaling contributes to intraneuronal transport of amyloid-beta and neuronal dysfunction. Proc Natl Acad Sci U S A (2009) 1.74
Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death. Cell (2008) 1.70
Receptor for advanced glycation end product-dependent activation of p38 mitogen-activated protein kinase contributes to amyloid-beta-mediated cortical synaptic dysfunction. J Neurosci (2008) 1.67
Squamous cell carcinoma arising in lichen simplex chronicus. Eur J Dermatol (2010) 1.64
Biventricular pacing is superior to right ventricular pacing in bradycardia patients with preserved systolic function: 2-year results of the PACE trial. Eur Heart J (2011) 1.61
Insulin-like growth factor attenuates apoptosis and mucosal damage in hypoxia/reoxygenation-induced intestinal injury. Biol Neonate (2004) 1.59
A gender- and sexual orientation-dependent spatial attentional effect of invisible images. Proc Natl Acad Sci U S A (2006) 1.55
Left atrial regional phasic strain, strain rate and velocity by speckle-tracking echocardiography: normal values and effects of aging in a large group of normal subjects. Int J Cardiol (2013) 1.52
No association between CYP1B1 Val432Leu polymorphism and breast cancer risk: a meta-analysis involving 40,303 subjects. Breast Cancer Res Treat (2009) 1.49
Minireview: epigenetic changes in ovarian cancer. Endocrinology (2009) 1.49
Normal values of left and right ventricular function measured by M-mode, pulsed doppler and Doppler tissue imaging in healthy term neonates during a 1-year period. Early Hum Dev (2012) 1.47
Arterial ischemic stroke: experience in Chinese children. Pediatr Neurol (2008) 1.47
Endoscopic therapy for esophageal perforation or anastomotic leak with a self-expandable metallic stent. Surg Endosc (2009) 1.47
Efficacy and safety of sorafenib in patients with advanced hepatocellular carcinoma according to baseline status: subset analyses of the phase III Sorafenib Asia-Pacific trial. Eur J Cancer (2012) 1.45
Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome. N Engl J Med (2017) 1.39
Repair of basal cell carcinoma on the outer canthus via a bifurcated island flap. Dermatol Surg (2006) 1.39
Cascade control of superheated steam temperature with neuro-PID controller. ISA Trans (2012) 1.39
Vitamin D receptor protein expression in tumor tissue and prostate cancer progression. J Clin Oncol (2011) 1.39
Hyperkalemia most likely associated with massive cephalhematoma in a newborn infant who was treated with urgent peritoneal dialysis: case report. J Emerg Med (2003) 1.38
Ostalpha-Ostbeta is required for bile acid and conjugated steroid disposition in the intestine, kidney, and liver. Am J Physiol Gastrointest Liver Physiol (2008) 1.34
MicroRNA let-7c inhibits migration and invasion of human non-small cell lung cancer by targeting ITGB3 and MAP4K3. Cancer Lett (2013) 1.31
Novel pandemic influenza A(H1N1) viruses are potently inhibited by DAS181, a sialidase fusion protein. PLoS One (2009) 1.30
Individual human phenotypes in metabolic space and time. J Proteome Res (2009) 1.29
Stat3-dependent acute Rantes production in vascular smooth muscle cells modulates inflammation following arterial injury in mice. J Clin Invest (2009) 1.28
Zfp143 regulates Nanog through modulation of Oct4 binding. Stem Cells (2008) 1.27
Immediate risk for cardiovascular events and suicide following a prostate cancer diagnosis: prospective cohort study. PLoS Med (2009) 1.26
A reference methylome database and analysis pipeline to facilitate integrative and comparative epigenomics. PLoS One (2013) 1.26
A mutation found in the promoter region of the human survivin gene is correlated to overexpression of survivin in cancer cells. DNA Cell Biol (2004) 1.24
Heterodimerization, trafficking and membrane topology of the two proteins, Ost alpha and Ost beta, that constitute the organic solute and steroid transporter. Biochem J (2007) 1.22
NMR-spectroscopy for nontargeted screening and simultaneous quantification of health-relevant compounds in foods: the example of melamine. J Agric Food Chem (2009) 1.21
A recombinant sialidase fusion protein effectively inhibits human parainfluenza viral infection in vitro and in vivo. J Infect Dis (2010) 1.21
Metabolic profiling of human lung cancer tissue by 1H high resolution magic angle spinning (HRMAS) NMR spectroscopy. J Proteome Res (2010) 1.20
Ginsenoside Rg1 attenuates dopamine-induced apoptosis in PC12 cells by suppressing oxidative stress. Eur J Pharmacol (2003) 1.20
Interaction of amyloid binding alcohol dehydrogenase/Abeta mediates up-regulation of peroxiredoxin II in the brains of Alzheimer's disease patients and a transgenic Alzheimer's disease mouse model. Mol Cell Neurosci (2007) 1.19
DAS181 inhibits H5N1 influenza virus infection of human lung tissues. Antimicrob Agents Chemother (2009) 1.18
Quantitative analysis of mitral valve morphology in mitral valve prolapse with real-time 3-dimensional echocardiography: importance of annular saddle shape in the pathogenesis of mitral regurgitation. Circulation (2012) 1.16
Targeting pandemic influenza: a primer on influenza antivirals and drug resistance. J Antimicrob Chemother (2010) 1.15
Selective head cooling with hypothermia suppresses the generation of platelet-activating factor in cerebrospinal fluid of newborn infants with perinatal asphyxia. Prostaglandins Leukot Essent Fatty Acids (2003) 1.14
Ginsenoside Rg1 reduces MPTP-induced substantia nigra neuron loss by suppressing oxidative stress. Acta Pharmacol Sin (2005) 1.13
A biophysical model for analysis of transcription factor interaction and binding site arrangement from genome-wide binding data. PLoS One (2009) 1.13
Treatment of parainfluenza 3 infection with DAS181 in a patient after allogeneic stem cell transplantation. Clin Infect Dis (2011) 1.13
Hydrogen sulfide promotes root organogenesis in Ipomoea batatas, Salix matsudana and Glycine max. J Integr Plant Biol (2009) 1.13
Precision high-throughput proton NMR spectroscopy of human urine, serum, and plasma for large-scale metabolic phenotyping. Anal Chem (2014) 1.12
RelB enhances prostate cancer growth: implications for the role of the nuclear factor-kappaB alternative pathway in tumorigenicity. Cancer Res (2009) 1.12
Arabidopsis P-glycoprotein19 participates in the inhibition of gravitropism by gravacin. Chem Biol (2007) 1.12
DNA methylation dynamics during intestinal stem cell differentiation reveals enhancers driving gene expression in the villus. Genome Biol (2013) 1.12
An inter-laboratory comparison demonstrates that [H]-NMR metabolite fingerprinting is a robust technique for collaborative plant metabolomic data collection. Metabolomics (2010) 1.11
Inhibition of amyloid-beta (Abeta) peptide-binding alcohol dehydrogenase-Abeta interaction reduces Abeta accumulation and improves mitochondrial function in a mouse model of Alzheimer's disease. J Neurosci (2011) 1.11
A high-resolution solid-state NMR approach for the structural studies of bicelles. J Am Chem Soc (2006) 1.11
Distribution of megaplasmids in Lactobacillus salivarius and other lactobacilli. J Bacteriol (2007) 1.11
Protection against avian influenza H9N2 virus challenge by immunization with hemagglutinin- or neuraminidase-expressing DNA in BALB/c mice. Biochem Biophys Res Commun (2006) 1.10
Discrimination of metabolic profiles of pancreatic cancer from chronic pancreatitis by high-resolution magic angle spinning 1H nuclear magnetic resonance and principal components analysis. Cancer Sci (2007) 1.10
Inhibition of neuraminidase inhibitor-resistant influenza virus by DAS181, a novel sialidase fusion protein. PLoS One (2009) 1.10
Suppression of RelB-mediated manganese superoxide dismutase expression reveals a primary mechanism for radiosensitization effect of 1alpha,25-dihydroxyvitamin D(3) in prostate cancer cells. Mol Cancer Ther (2007) 1.09
Molecular structures and associations of humic substances in the terrestrial environment. Naturwissenschaften (2002) 1.08
Suppression of autophagy by FIP200 deletion leads to osteopenia in mice through the inhibition of osteoblast terminal differentiation. J Bone Miner Res (2013) 1.08
Responses to lightness variations in early human visual cortex. Curr Biol (2007) 1.08
Quantification of left ventricular regional myocardial function using two-dimensional speckle tracking echocardiography in healthy volunteers--a multi-center study. Int J Cardiol (2012) 1.08
A rare Asian founder polymorphism of Raptor may explain the high prevalence of Moyamoya disease among East Asians and its low prevalence among Caucasians. Environ Health Prev Med (2009) 1.08
Hepatotoxicity or hepatoprotection? Pattern recognition for the paradoxical effect of the Chinese herb Rheum palmatum L. in treating rat liver injury. PLoS One (2011) 1.08
Value of biochemical markers for outcome in term infants with asphyxia. Pediatr Neurol (2004) 1.05
OST alpha-OST beta: a key membrane transporter of bile acids and conjugated steroids. Front Biosci (Landmark Ed) (2009) 1.05
Multivalent epigenetic marks confer microenvironment-responsive epigenetic plasticity to ovarian cancer cells. Epigenetics (2010) 1.05
SN52, a novel nuclear factor-kappaB inhibitor, blocks nuclear import of RelB:p52 dimer and sensitizes prostate cancer cells to ionizing radiation. Mol Cancer Ther (2008) 1.04