Published in Clin Biochem on November 23, 2005
Assessing bioenergetic function in response to oxidative stress by metabolic profiling. Free Radic Biol Med (2011) 2.40
A retrospective analysis of the incidence of hemolysis in type and screen specimens from trauma patients. Int J Angiol (2009) 0.76
Targeting histone deacetylase in cancer therapy. Med Res Rev (2006) 1.69
Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004. Am J Med Genet A (2009) 1.67
Colonization of severe acute respiratory syndrome-associated coronavirus among health-care workers screened by nasopharyngeal swab. Chest (2006) 1.60
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. J Inherit Metab Dis (2014) 1.60
Meta-analysis: the clinical features of the duodenal duplication cyst. J Pediatr Surg (2010) 1.58
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab (2013) 1.57
NEMO gene mutations in Chinese patients with incontinentia pigmenti. J Formos Med Assoc (2010) 1.51
Usefulness of magnetic resonance cholangiopancreatography in pancreatobiliary abnormalities in pediatric patients. Pediatr Neonatol (2011) 1.45
Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation. Fertil Steril (2007) 1.42
Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004. Am J Med Genet A (2006) 1.41
Detection of chromosome aberrations during prenatal genetic testing for single gene disorders. Prenat Diagn (2004) 1.39
Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004. Pediatr Int (2007) 1.15
Clinical significance in previously healthy children of Pseudomonas aeruginosa in the stool. Pediatr Neonatol (2009) 1.10
p-Cresylsulfate and indoxyl sulfate level at different stages of chronic kidney disease. J Clin Lab Anal (2011) 1.09
Concomitant rotavirus and Salmonella infections in children with acute diarrhea. Pediatr Neonatol (2009) 1.06
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria. J Hum Genet (2010) 1.06
A twenty-year review of early and late-presenting congenital Bochdalek diaphragmatic hernia: are they different clinical spectra? Pediatr Neonatol (2010) 1.05
Neonatal gastric perforation: report of 15 cases and review of the literature. Pediatr Neonatol (2008) 1.05
Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome. Pediatr Nephrol (2008) 1.02
Indoxyl sulfate predicts cardiovascular disease and renal function deterioration in advanced chronic kidney disease. Arch Med Res (2012) 0.99
Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A). J Inherit Metab Dis (2010) 0.98
Intestinal angiodysplasia: an uncommon cause of gastrointestinal bleeding in children. Pediatr Neonatol (2011) 0.96
Transmission of cytomegalovirus from mothers to preterm infants by breast milk. Pediatr Infect Dis J (2004) 0.96
Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses. Orphanet J Rare Dis (2013) 0.96
Effects of growth hormone treatment on height, weight, and obesity in Taiwanese patients with Prader-Willi syndrome. J Chin Med Assoc (2008) 0.95
Imaging of zebrafish in vivo with second-harmonic generation reveals shortened sarcomeres associated with myopathy induced by statin. PLoS One (2011) 0.94
Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers. Clin Chim Acta (2006) 0.94
Serum cytokines in differentiating between viral and bacterial enterocolitis. Ann Trop Paediatr (2004) 0.94
RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia. Genet Mol Biol (2011) 0.93
Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion. Prenat Diagn (2002) 0.93
Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A). Clin Chim Acta (2013) 0.92
Management of foreign body ingestion in children: experience with 42 cases. Acta Paediatr Taiwan (2004) 0.92
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan. Orphanet J Rare Dis (2013) 0.91
Clinical features of Ehlers-Danlos syndrome. J Formos Med Assoc (2006) 0.91
Prenatal sonographic findings of Klippel-Trénaunay-Weber syndrome. J Clin Ultrasound (2007) 0.91
Generalized arterial calcification of infancy: different clinical courses in two affected siblings. Am J Med Genet A (2005) 0.91
Serum p-cresyl sulfate predicts cardiovascular disease and mortality in elderly hemodialysis patients. Arch Med Sci (2013) 0.90
Polysomnographic characteristics in patients with mucopolysaccharidoses. Pediatr Pulmonol (2010) 0.90
Inhibitory effects of Lactobacillus casei subsp. rhamnosus on Salmonella lipopolysaccharide-induced inflammation and epithelial barrier dysfunction in a co-culture model using Caco-2/peripheral blood mononuclear cells. J Med Microbiol (2010) 0.89
Rapid progressive course of later-onset Pompe disease in Chinese patients. Mol Genet Metab (2011) 0.89
The hsp65 gene patterns of less common Mycobacterium and Nocardia spp. by polymerase chain reaction-restriction fragment length polymorphism analysis with capillary electrophoresis. Diagn Microbiol Infect Dis (2007) 0.88
Enzyme replacement therapy for mucopolysaccharidosis VI--experience in Taiwan. J Inherit Metab Dis (2010) 0.88
Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome. Taiwan J Obstet Gynecol (2012) 0.88
Renal sonographic findings of type I glycogen storage disease in infancy and early childhood. Pediatr Radiol (2005) 0.87
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome. Ann Hum Genet (2009) 0.87
Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review. Fertil Steril (2008) 0.87
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. Orphanet J Rare Dis (2012) 0.86
Congenital webs of the gastrointestinal tract: 20 years of experience from a pediatric care teaching hospital in taiwan. Pediatr Neonatol (2012) 0.86
ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese children. Hum Mol Genet (2010) 0.86
6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay. Gene (2013) 0.86
Perinatal imaging findings of inherited Sotos syndrome. Prenat Diagn (2002) 0.86
Overexpression of Akt1 enhances adipogenesis and leads to lipoma formation in zebrafish. PLoS One (2012) 0.86
The role of protein-bound uremic toxins on peripheral artery disease and vascular access failure in patients on hemodialysis. Atherosclerosis (2012) 0.85
Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay. Eur J Med Genet (2010) 0.85
Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q. Am J Med Genet A (2006) 0.85
A seroepidemiologic study of Helicobacter pylori and hepatitis A virus infection in primary school students in Taipei. J Microbiol Immunol Infect (2005) 0.84
Genetic variation in the vascular endothelial growth factor gene is associated with biliary atresia. J Clin Gastroenterol (2010) 0.84
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. Clin Chim Acta (2008) 0.84
A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay. Eur J Med Genet (2008) 0.84
Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene. BMC Med Genet (2011) 0.84
Activation of silenced tumor suppressor genes in prostate cancer cells by a novel energy restriction-mimetic agent. Prostate (2012) 0.84
A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses. Orphanet J Rare Dis (2014) 0.83
Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A). BMJ Open (2013) 0.83
An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy. Gene (2013) 0.83
Genetic variations of HLA-DRB1 and susceptibility to Kawasaki disease in Taiwanese children. Hum Immunol (2006) 0.83
Diagnosis of Henoch-Schönlein purpura by sonography and radionuclear scanning in a child presenting with bilateral acute scrotum. J Microbiol Immunol Infect (2004) 0.83
A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings. Eur J Med Genet (2010) 0.83
Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome. Prenat Diagn (2006) 0.83
Recurrent Intussusception: when Should Surgical Intervention be performed? Pediatr Neonatol (2012) 0.83
Sonogram before and after pyloromyotomy: the pyloric ratio in infantile hypertrophic pyloric stenosis. Pediatr Neonatol (2009) 0.82
OmpA is the critical component for Escherichia coli invasion-induced astrocyte activation. J Neuropathol Exp Neurol (2009) 0.82
Free amino acids in full-term and pre-term human milk and infant formula. J Pediatr Gastroenterol Nutr (2005) 0.82
Genetic polymorphisms in the CD40 ligand gene and Kawasaki disease. J Clin Immunol (2008) 0.82
Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature. Eur J Pediatr (2008) 0.82
Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity. J Formos Med Assoc (2002) 0.82
Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization. Taiwan J Obstet Gynecol (2010) 0.82
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. Am J Med Genet A (2011) 0.82
Constipation is a major complication after posterior sagittal anorectoplasty for anorectal malformations in children. Pediatr Neonatol (2012) 0.81
Biliary cysts in children--long-term follow-up in Taiwan. J Formos Med Assoc (2006) 0.81
Lipoteichoic acid induces prostaglandin E(2) release and cyclooxygenase-2 synthesis in rat cortical neuronal cells: involvement of PKCepsilon and ERK activation. Life Sci (2006) 0.81
Cardiovascular changes in mucopolysaccharidoses in Taiwan. Acta Cardiol (2005) 0.81
Polysomnographic characteristics in patients with Prader-Willi syndrome. Pediatr Pulmonol (2007) 0.81
Quantitative assay of deletion or duplication genotype by capillary electrophoresis system: Application in Prader-Willi syndrome and Duchenne muscular dystrophy. Clin Chem (2006) 0.81
Genotype and phenotype in patients with Prader-Willi syndrome in Taiwan. Acta Paediatr (2007) 0.81
A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family. Am J Med Genet A (2011) 0.81
A paternally derived inverted duplication of distal 14q with a terminal 14q deletion. Am J Med Genet A (2005) 0.81
Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR. Electrophoresis (2009) 0.81
Urinary tract infections in infants: comparison between those with conjugated vs unconjugated hyperbilirubinaemia. Ann Trop Paediatr (2005) 0.81
Acute torsion of wandering spleen: report of one case. Pediatr Neonatol (2009) 0.80
Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A). Orphanet J Rare Dis (2014) 0.80
Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. J Formos Med Assoc (2007) 0.80