Published in Am J Med Genet A on May 01, 2009
Newborn screening and diagnosis of mucopolysaccharidoses. Mol Genet Metab (2013) 1.13
Growth charts for patients with Hunter syndrome. Mol Genet Metab Rep (2014) 1.08
A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases. Orphanet J Rare Dis (2014) 0.97
Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses. Orphanet J Rare Dis (2013) 0.96
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan. Orphanet J Rare Dis (2013) 0.91
Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing. PLoS One (2011) 0.90
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. Orphanet J Rare Dis (2012) 0.86
Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses. Mol Genet Metab (2014) 0.86
Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders. Br J Radiol (2013) 0.86
Clinical course of sly syndrome (mucopolysaccharidosis type VII). J Med Genet (2016) 0.84
Impact of Enzyme Replacement Therapy and Hematopoietic Stem Cell Therapy on Growth in Patients with Hunter Syndrome. Mol Genet Metab Rep (2014) 0.84
Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population. JIMD Rep (2013) 0.81
Clinical and biochemical studies in mucopolysaccharidosis type II carriers. J Inherit Metab Dis (2009) 0.81
A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB. Ann Lab Med (2013) 0.81
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012. Orphanet J Rare Dis (2016) 0.81
Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA. Orphanet J Rare Dis (2014) 0.81
An overview of Korean patients with mucopolysaccharidosis and collaboration through the Asia Pacific MPS Network. Intractable Rare Dis Res (2014) 0.81
Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome). J Korean Med Sci (2014) 0.80
Sanfilippo syndrome: causes, consequences, and treatments. Appl Clin Genet (2015) 0.79
Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I. Ann Otol Rhinol Laryngol (2014) 0.79
The live-birth prevalence of mucopolysaccharidoses in Estonia. Genet Test Mol Biomarkers (2012) 0.79
The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation. Ann Lab Med (2012) 0.78
Diagnostic and treatment strategies in mucopolysaccharidosis VI. Appl Clin Genet (2015) 0.77
Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II. Diagn Pathol (2011) 0.77
Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series. Mol Genet Metab Rep (2016) 0.77
Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series. Int J Mol Sci (2016) 0.75
Long-term clinical course of a patient with mucopolysaccharidosis type IIIB. Korean J Pediatr (2016) 0.75
Challenges in the Management of Mucopolysaccharidosis Type II (Hunter's Syndrome) in a Developing Country: a Case Report. Ethiop J Health Sci (2015) 0.75
The Complexity of Pain Management in Children Affected by Mucopolysaccharidoses. Case Rep Pediatr (2017) 0.75
Rare causes of osteoporosis. Clin Cases Miner Bone Metab (2015) 0.75
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII. Prenat Diagn (2017) 0.75
Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China. J Hum Genet (2016) 0.75
Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II. Mol Genet Metab Rep (2017) 0.75
ERK promotes tumorigenesis by inhibiting FOXO3a via MDM2-mediated degradation. Nat Cell Biol (2008) 5.19
Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. Nat Genet (2011) 4.50
IKK beta suppression of TSC1 links inflammation and tumor angiogenesis via the mTOR pathway. Cell (2007) 4.48
Erk associates with and primes GSK-3beta for its inactivation resulting in upregulation of beta-catenin. Mol Cell (2005) 3.89
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr (2006) 3.45
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med (2011) 3.21
Meta-analysis identifies common variants associated with body mass index in east Asians. Nat Genet (2012) 2.70
Ethylene glycol induces calcium oxalate crystal deposition in Malpighian tubules: a Drosophila model for nephrolithiasis/urolithiasis. Kidney Int (2011) 2.28
Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. Hum Mutat (2013) 2.17
PSORS2 is due to mutations in CARD14. Am J Hum Genet (2012) 2.10
Long contiguous stretches of homozygosity in the human genome. Hum Mutat (2006) 2.07
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. Nat Genet (2012) 2.05
The crosstalk of mTOR/S6K1 and Hedgehog pathways. Cancer Cell (2012) 2.02
Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics (2008) 1.95
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat (2009) 1.78
Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome. Am J Med Genet A (2009) 1.74
iSMART: an integrated cloud computing web server for traditional Chinese medicine for online virtual screening, de novo evolution and drug design. J Biomol Struct Dyn (2011) 1.72
Targeting histone deacetylase in cancer therapy. Med Res Rev (2006) 1.69
Novel point mutations in complete androgen insensitivity syndrome with incomplete müllerian regression: two Taiwanese patients. Eur J Pediatr (2003) 1.65
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
Chinese herbal medicines used in pregnancy: a population-based survey in Taiwan. Pharmacoepidemiol Drug Saf (2007) 1.59
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab (2013) 1.57
Down-regulation of myeloid cell leukemia-1 through inhibiting Erk/Pin 1 pathway by sorafenib facilitates chemosensitization in breast cancer. Cancer Res (2008) 1.56
Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics (2009) 1.56
Subunit 6 of the COP9 signalosome promotes tumorigenesis in mice through stabilization of MDM2 and is upregulated in human cancers. J Clin Invest (2011) 1.54
Association between prenatal exposure to phthalates and the health of newborns. Environ Int (2008) 1.51
NEMO gene mutations in Chinese patients with incontinentia pigmenti. J Formos Med Assoc (2010) 1.51
Mesenchymal stem cell insights: prospects in cardiovascular therapy. Cell Transplant (2014) 1.50
Debate in newborn screening for metabolic disorders in Taiwan--a voluntary screening? Mandatory screening? Or both? Acta Paediatr Taiwan (2003) 1.48
Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome. J Hum Genet (2010) 1.46
Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort. Acta Paediatr (2007) 1.46
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations. J Hum Genet (2012) 1.46
Tumor necrosis factor-α gene polymorphisms in age-related macular degeneration. Retina (2010) 1.45
Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions. Epilepsia (2003) 1.44
Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med (2012) 1.44
Association between angiotensin I-converting enzyme gene insertion/deletion polymorphism and mitral valve prolapse syndrome. Am Heart J (2003) 1.43
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
Aicardi syndrome in a 47, XXY male neonate with lissencephaly and holoprosencephaly. J Neurol Sci (2009) 1.41
Association of cord plasma leptin with birth size in term newborns. Pediatr Neonatol (2009) 1.41
Deletion of the C4-CYP21 repeat module leading to the formation of a chimeric CYP21P/CYP21 gene in a 9.3-kb fragment as a cause of steroid 21-hydroxylase deficiency. Clin Chem (2003) 1.41
Detection of chromosome aberrations during prenatal genetic testing for single gene disorders. Prenat Diagn (2004) 1.39
Factors associated with adolescents' perspectives on health needs and preference for health information sources in Taiwan. Arch Dis Child (2012) 1.39
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Circ Cardiovasc Genet (2009) 1.39
Distal arthrogryposis in two sisters born to different fathers. Am J Med Genet A (2004) 1.38
A step-wise diagnosis of fragile X syndrome in Taiwan. Acta Paediatr Taiwan (2004) 1.38
Functional genomic analysis identified epidermal growth factor receptor activation as the most common genetic event in oral squamous cell carcinoma. Cancer Res (2009) 1.36
Smoking and genetic risk variation across populations of European, Asian, and African American ancestry--a meta-analysis of chromosome 15q25. Genet Epidemiol (2012) 1.34
Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis. Nat Genet (2012) 1.30
Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations. Blood Cells Mol Dis (2006) 1.28
Osteopontin increases lung cancer cells migration via activation of the alphavbeta3 integrin/FAK/Akt and NF-kappaB-dependent pathway. Lung Cancer (2008) 1.25
Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification. Hum Mol Genet (2011) 1.23
Oxidative DNA damage in pterygium. Mol Vis (2005) 1.23
Genome-wide association study of diabetic retinopathy in a Taiwanese population. Ophthalmology (2011) 1.23
Ligand-based dual target drug design for H1N1: swine flu--a preliminary first study. J Biomol Struct Dyn (2009) 1.22
Investigation into potent inflammation inhibitors from traditional Chinese medicine. Chem Biol Drug Des (2011) 1.21
Anti-SARS coronavirus 3C-like protease effects of Isatis indigotica root and plant-derived phenolic compounds. Antiviral Res (2005) 1.21
Structure-based and ligand-based drug design for HER 2 receptor. J Biomol Struct Dyn (2010) 1.21
Identification of over-expressed proteins in oral squamous cell carcinoma (OSCC) patients by clinical proteomic analysis. Clin Chim Acta (2006) 1.20
Lung toxicity of hydroxypropyl-β-cyclodextrin infusion. Mol Genet Metab (2013) 1.19
The roles of human sucrose nonfermenting protein 2 homologue in the tumor-promoting functions of Rsf-1. Cancer Res (2008) 1.16
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry. Clin Chim Acta (2010) 1.16
Molecular genetic analysis of the TSC genes in two families with prenatally diagnosed rhabdomyomas. Prenat Diagn (2005) 1.15
Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004. Pediatr Int (2007) 1.15
Chinese herbal medicine use in Taiwan during pregnancy and the postpartum period: a population-based cohort study. Int J Nurs Stud (2009) 1.15
Diagnosing mucopolysaccharidosis IVA. J Inherit Metab Dis (2013) 1.14
Association of phospholipase A2 receptor 1 polymorphisms with idiopathic membranous nephropathy in Chinese patients in Taiwan. J Biomed Sci (2010) 1.14
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. Mol Genet Metab (2009) 1.13
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. J Inherit Metab Dis (2010) 1.13
Vascular endothelial growth factor gene polymorphisms in age-related macular degeneration. Am J Ophthalmol (2008) 1.12
Establishing a standardized therapeutic testing protocol for spinal muscular atrophy. Neurobiol Dis (2006) 1.11
Screening from the world's largest TCM database against H1N1 virus. J Biomol Struct Dyn (2011) 1.11
Comparison of the survival difference between AJCC 6th and 7th editions for gastric cancer patients. World J Surg (2011) 1.11
Rsf-1, a chromatin remodeling protein, induces DNA damage and promotes genomic instability. J Biol Chem (2010) 1.10
p-Cresylsulfate and indoxyl sulfate level at different stages of chronic kidney disease. J Clin Lab Anal (2011) 1.09
Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study. PLoS One (2011) 1.08
Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience. Stem Cells Transl Med (2013) 1.08
Association of a single-nucleotide polymorphism of the deleted-in-azoospermia-like gene with susceptibility to spermatogenic failure. J Clin Endocrinol Metab (2002) 1.06
RANKL increases migration of human lung cancer cells through intercellular adhesion molecule-1 up-regulation. J Cell Biochem (2011) 1.06
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? Clin Chim Acta (2010) 1.06
Endothelin-1 promotes MMP-13 production and migration in human chondrosarcoma cells through FAK/PI3K/Akt/mTOR pathways. J Cell Physiol (2012) 1.06
In silico pharmacology suggests ginger extracts may reduce stroke risks. Mol Biosyst (2011) 1.06
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria. J Hum Genet (2010) 1.06
Potent inhibitor design against H1N1 swine influenza: structure-based and molecular dynamics analysis for M2 inhibitors from traditional Chinese medicine database. J Biomol Struct Dyn (2011) 1.05
Anti-apoptotic and pro-survival effects of exercise training on hypertensive hearts. J Appl Physiol (1985) (2011) 1.05
Talin-1 overexpression defines high risk for aggressive oral squamous cell carcinoma and promotes cancer metastasis. J Pathol (2011) 1.05
An in vivo evaluation of a biodegradable genipin-cross-linked gelatin peripheral nerve guide conduit material. Biomaterials (2005) 1.04
Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci. Hypertension (2013) 1.03
Electrophysiological changes in lipaemia retinalis. Am J Ophthalmol (2005) 1.03
Association of the Slit and Trk-like 1 gene in Taiwanese patients with Tourette syndrome. Pediatr Neurol (2007) 1.03
Matrix metalloproteinase-9 polymorphism and risk of pelvic organ prolapse in Taiwanese women. Eur J Obstet Gynecol Reprod Biol (2010) 1.03
Maternal return to work and breastfeeding: a population-based cohort study. Int J Nurs Stud (2009) 1.02