Published in Am J Med Genet A on May 12, 2011
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. Eur J Hum Genet (2013) 0.92
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. Am J Hum Genet (2015) 0.87
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. Int J Mol Sci (2017) 0.75
Regioselective one-pot protection of carbohydrates. Nature (2007) 1.87
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
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
Carbon monoxide poisoning in children. Pediatr Neonatol (2008) 1.45
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
Design of a robust infrastructure to monitor the safety of the pandemic A(H1N1) 2009 vaccination program in Taiwan. Vaccine (2010) 1.18
Improving disulfide connectivity prediction with sequential distance between oxidized cysteines. Bioinformatics (2005) 1.15
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
Dose-dependent effect of Lactobacillus rhamnosus on quantitative reduction of faecal rotavirus shedding in children. J Trop Pediatr (2009) 1.10
Cysteine separations profiles on protein sequences infer disulfide connectivity. Bioinformatics (2004) 1.09
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
Hepatitis C virus NS3 RNA helicase activity is modulated by the two domains of NS3 and NS4A. Biochem Biophys Res Commun (2004) 1.02
Indoxyl sulfate predicts cardiovascular disease and renal function deterioration in advanced chronic kidney disease. Arch Med Res (2012) 0.99
High cytomegalovirus load and prolonged virus excretion in breast milk increase risk for viral acquisition by very low birth weight infants. Pediatr Infect Dis J (2009) 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
Characterization of pulmonary function impairments in patients with mucopolysaccharidoses--changes with age and treatment. Pediatr Pulmonol (2013) 0.97
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
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
The discovery of potential acetylcholinesterase inhibitors: a combination of pharmacophore modeling, virtual screening, and molecular docking studies. J Biomed Sci (2011) 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
Repeated light-dark shifts speed up body weight gain in male F344 rats. Am J Physiol Endocrinol Metab (2005) 0.92
Factors for poor prognosis of neonatal bacterial meningitis in a medical center in Northern Taiwan. J Microbiol Immunol Infect (2012) 0.92
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
Prenatal sonographic findings of Klippel-Trénaunay-Weber syndrome. J Clin Ultrasound (2007) 0.91
Clinical features of Ehlers-Danlos syndrome. J Formos Med Assoc (2006) 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
Melas with point mutations involving tRNALeu (A3243G) and tRNAGlu(A14693g). Muscle Nerve (2003) 0.90
Chemical chaperone and inhibitor discovery: potential treatments for protein conformational diseases. Perspect Medicin Chem (2007) 0.90
Usage of the claim database of national health insurance programme for analysis of cisapride-erythromycin co-medication in Taiwan. Pharmacoepidemiol Drug Saf (2007) 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
Clinical manifestations, laboratory findings and complications of pediatric scrub typhus in eastern Taiwan. Pediatr Neonatol (2009) 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
Multiple giant Virchow-Robin spaces. Pediatr Neurol (2013) 0.87
Aclacinomycin A sensitizes K562 chronic myeloid leukemia cells to imatinib through p38MAPK-mediated erythroid differentiation. PLoS One (2013) 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
Selective inhibition of the NLRP3 inflammasome by targeting to promyelocytic leukemia protein in mouse and human. Blood (2013) 0.86
In vitro prevention of salmonella lipopolysaccharide-induced damages in epithelial barrier function by various lactobacillus strains. Gastroenterol Res Pract (2013) 0.86
The reporting completeness of a passive safety surveillance system for pandemic (H1N1) 2009 vaccines: a capture-recapture analysis. Vaccine (2012) 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
Congenital webs of the gastrointestinal tract: 20 years of experience from a pediatric care teaching hospital in taiwan. Pediatr Neonatol (2012) 0.86
Adverse events following pandemic A (H1N1) 2009 monovalent vaccines in pregnant women--Taiwan, November 2009-August 2010. PLoS One (2011) 0.86
Perinatal imaging findings of inherited Sotos syndrome. Prenat Diagn (2002) 0.86
ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese children. Hum Mol Genet (2010) 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
SOX2 modulates alternative splicing in transitional cell carcinoma. Biochem Biophys Res Commun (2010) 0.85
Interference and blood sample preparation for a pyruvate enzymatic assay. Clin Biochem (2005) 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
Fibronectin modulates the morphology of osteoblast-like cells (MG-63) on nano-grooved substrates. J Mater Sci Mater Med (2009) 0.84
A seroepidemiologic study of Helicobacter pylori and hepatitis A virus infection in primary school students in Taipei. J Microbiol Immunol Infect (2005) 0.84
Comparison of parenteral iron sucrose and ferric chloride during erythropoietin therapy of haemodialysis patients. Nephrology (Carlton) (2010) 0.84
Quantitative analysis of osteoblast-like cells (MG63) morphology on nanogrooved substrata with various groove and ridge dimensions. J Biomed Mater Res A (2009) 0.84
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. Clin Chim Acta (2008) 0.84
Prognostic factors of developmental outcome in neonatal seizures in term infants. Pediatr Neonatol (2013) 0.84
Activation of silenced tumor suppressor genes in prostate cancer cells by a novel energy restriction-mimetic agent. Prostate (2012) 0.84