Published in J Pediatr Gastroenterol Nutr on June 01, 2010
SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China. PLoS One (2013) 1.16
Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study. Biomed Res Int (2016) 0.79
Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance. Int J Mol Med (2014) 0.78
Citrin deficiency: learn more, and don't forget to add it to the list of neonatal cholestasis and the NASH trash bin. J Pediatr Gastroenterol Nutr (2010) 0.78
Characterization of two types of endothelial progenitor cells and their different contributions to neovasculogenesis. Arterioscler Thromb Vasc Biol (2003) 4.35
Extracorporeal cardiopulmonary resuscitation in patients with inhospital cardiac arrest: A comparison with conventional cardiopulmonary resuscitation. Crit Care Med (2011) 2.77
Percutaneous coronary intervention for nonculprit vessels in cardiogenic shock complicating ST-segment elevation acute myocardial infarction. Crit Care Med (2014) 2.70
Six-month versus 12-month dual antiplatelet therapy after implantation of drug-eluting stents: the Efficacy of Xience/Promus Versus Cypher to Reduce Late Loss After Stenting (EXCELLENT) randomized, multicenter study. Circulation (2011) 2.40
Engineered Saccharomyces cerevisiae capable of simultaneous cellobiose and xylose fermentation. Proc Natl Acad Sci U S A (2010) 2.04
Noninvasive diagnosis of ischemia-causing coronary stenosis using CT angiography: diagnostic value of transluminal attenuation gradient and fractional flow reserve computed from coronary CT angiography compared to invasively measured fractional flow reserve. JACC Cardiovasc Imaging (2012) 1.73
Interaction between Tie receptors modulates angiogenic activity of angiopoietin2 in endothelial progenitor cells. Cardiovasc Res (2006) 1.72
Mortality risk in symptomatic patients with nonobstructive coronary artery disease: a prospective 2-center study of 2,583 patients undergoing 64-detector row coronary computed tomographic angiography. J Am Coll Cardiol (2011) 1.56
Identification of 15 loci influencing height in a Korean population. J Hum Genet (2009) 1.52
Final kissing ballooning and long-term clinical outcomes in coronary bifurcation lesions treated with 1-stent technique: results from the COBIS registry. Heart (2011) 1.52
Clinical characteristics, ballooning pattern, and long-term prognosis of transient left ventricular ballooning syndrome. Heart Lung (2009) 1.52
Relationship of coronary artery plaque composition to coronary artery stenosis severity: results from the prospective multicenter ACCURACY trial. Atherosclerosis (2011) 1.51
Multivessel vs single-vessel revascularization in patients with non-ST-segment elevation acute coronary syndrome and multivessel disease in the drug-eluting stent era. Clin Cardiol (2011) 1.49
Transplantation of endothelial progenitor cells accelerates dermal wound healing with increased recruitment of monocytes/macrophages and neovascularization. Stem Cells (2005) 1.46
Comparison of coronary artery bypass grafting with drug-eluting stent implantation for the treatment of multivessel coronary artery disease. Ann Thorac Surg (2008) 1.44
Atomic structure, energetics, and dynamics of topological solitons in indium chains on Si(111) surfaces. Phys Rev Lett (2011) 1.42
High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis. J Pediatr Gastroenterol Nutr (2011) 1.30
Modified T-stenting with intentional protrusion of the side-branch stent within the main vessel stent to ensure ostial coverage and facilitate final kissing balloon: the T-stenting and small protrusion technique (TAP-stenting). Report of bench testing and first clinical Italian-Korean two-centre experience. Catheter Cardiovasc Interv (2007) 1.20
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. J Pediatr (2011) 1.17
Predictors and outcomes of side branch occlusion after main vessel stenting in coronary bifurcation lesions: results from the COBIS II Registry (COronary BIfurcation Stenting). J Am Coll Cardiol (2013) 1.16
Cardiovascular anomalies in patients with chromosome 22q11.2 deletion: a Korean multicenter study. Int J Cardiol (2006) 1.16
Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency. Horm Res Paediatr (2010) 1.13
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. J Clin Endocrinol Metab (2013) 1.09
Lung function, coronary artery calcification, and metabolic syndrome in 4905 Korean males. Respir Med (2010) 1.04
Progressive mesenteric lymphadenopathy with protein-losing enteropathy; a devastating complication in Gaucher disease. Mol Genet Metab (2011) 1.02
C-reactive protein impairs angiogenic functions and decreases the secretion of arteriogenic chemo-cytokines in human endothelial progenitor cells. Biochem Biophys Res Commun (2004) 1.02
High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. Horm Res Paediatr (2014) 1.01
Clinical characteristics and VPS33B mutations in patients with ARC syndrome. J Pediatr Gastroenterol Nutr (2009) 1.00
Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution. Mol Genet Metab (2012) 0.99
Expression and purification of enzymatically active forms of the human lysyl oxidase-like protein 4. J Biol Chem (2003) 0.99
Xylitol does not inhibit xylose fermentation by engineered Saccharomyces cerevisiae expressing xylA as severely as it inhibits xylose isomerase reaction in vitro. Appl Microbiol Biotechnol (2011) 0.98
A novel ex vivo angiogenesis assay based on electroporation-mediated delivery of naked plasmid DNA to skeletal muscle. Mol Ther (2004) 0.98
Identification of a novel human Rad51 variant that promotes DNA strand exchange. Nucleic Acids Res (2008) 0.98
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns. J Hum Genet (2010) 0.98
Control of puberty: genetics, endocrinology, and environment. Curr Opin Endocrinol Diabetes Obes (2013) 0.95
Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height. Hum Genet (2011) 0.94
Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. Clin Endocrinol (Oxf) (2011) 0.94
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. J Hum Genet (2008) 0.94
Development of SNP-based human identification system. Int J Legal Med (2010) 0.93
Differences in the risk factors for surgical site infection between total hip arthroplasty and total knee arthroplasty in the Korean Nosocomial Infections Surveillance System (KONIS). Infect Control Hosp Epidemiol (2012) 0.93
Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy. Neuromuscul Disord (2012) 0.92
Prospective nationwide surveillance of surgical site infections after gastric surgery and risk factor analysis in the Korean Nosocomial Infections Surveillance System (KONIS). Infect Control Hosp Epidemiol (2012) 0.91
Sirolimus- versus paclitaxel-eluting stents for the treatment of coronary bifurcations results: from the COBIS (Coronary Bifurcation Stenting) Registry. J Am Coll Cardiol (2010) 0.91
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. Hum Mutat (2007) 0.91
The butanol fraction of Eclipta prostrata (Linn) effectively reduces serum lipid levels and improves antioxidant activities in CD rats. Nutr Res (2008) 0.90
Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease. J Korean Med Sci (2008) 0.90
Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation. Gut Liver (2009) 0.90
A high loading dose of clopidogrel reduces myocardial infarct size in patients undergoing primary percutaneous coronary intervention: a magnetic resonance imaging study. Am Heart J (2012) 0.90
Effect of a standardized radiation dose reduction protocol on diagnostic accuracy of coronary computed tomographic angiography. Am J Cardiol (2010) 0.90
High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia. Eur J Endocrinol (2011) 0.89
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene. Eur J Pediatr (2008) 0.89
Percutaneous transseptal left atrial drainage for decompression of the left heart in an adult patient during percutaneous cardiopulmonary support. Korean Circ J (2011) 0.89
Short-term efficacy of monthly pamidronate infusion in patients with osteogenesis imperfecta. J Korean Med Sci (2007) 0.89
Reference values for serum levels of insulin-like growth factor-I and insulin-like growth factor binding protein-3 in Korean children and adolescents. Clin Biochem (2011) 0.89
Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res (2005) 0.89
Effects of atorvastatin pretreatment on infarct size in patients with ST-segment elevation myocardial infarction undergoing primary percutaneous coronary intervention. Am Heart J (2011) 0.89
Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis. Cancer Genet Cytogenet (2010) 0.89
Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report. Clin Chim Acta (2005) 0.88
Two-year survival and neurological outcome of in-hospital cardiac arrest patients rescued by extracorporeal cardiopulmonary resuscitation. Int J Cardiol (2013) 0.88
Comparison of transthoracic echocardiography with N-terminal pro-brain natriuretic Peptide as a tool for risk stratification of patients undergoing major noncardiac surgery. Korean Circ J (2011) 0.88
Molecular characterization of vancomycin-resistant enterococci from clinical and surveillance specimens. Infect Control Hosp Epidemiol (2006) 0.88
A case of campomelic dysplasia without sex reversal. J Korean Med Sci (2010) 0.88
Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia. Ophthalmology (2012) 0.88
A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation. Metabolism (2013) 0.87
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort. Liver Int (2011) 0.86
Hepatic lipase C514T polymorphism and its relationship with plasma HDL-C levels and coronary artery disease in Koreans. J Biochem Mol Biol (2003) 0.86
Identification of two novel mutations of IRF6 in Korean families affected with Van der Woude syndrome. Int J Mol Med (2003) 0.86
Complete versus incomplete revascularization for treatment of multivessel coronary artery disease in the drug-eluting stent era. Heart Vessels (2011) 0.86
Aldosterone upregulates connective tissue growth factor gene expression via p38 MAPK pathway and mineralocorticoid receptor in ventricular myocytes. J Korean Med Sci (2004) 0.86
Results of Extracorporeal Membrane Oxygenation (ECMO) Support before Coronary Reperfusion in Cardiogenic Shock with Acute Myocardial Infarction. Korean J Thorac Cardiovasc Surg (2011) 0.86
Chronic intermittent form of isovaleric aciduria in a 2-year-old boy. Korean J Pediatr (2013) 0.85
Argininemia presenting with progressive spastic diplegia. Pediatr Neurol (2011) 0.85