Published in Mol Genet Metab on January 01, 2010
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis (2011) 1.70
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis (2011) 1.67
Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis (2012) 1.11
Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI. J Inherit Metab Dis (2012) 0.93
Therapies for the bone in mucopolysaccharidoses. Mol Genet Metab (2014) 0.89
Relationship of sleep to pulmonary function in mucopolysaccharidosis II. J Pediatr (2013) 0.89
Impact of Enzyme Replacement Therapy and Hematopoietic Stem Cell Therapy on Growth in Patients with Hunter Syndrome. Mol Genet Metab Rep (2014) 0.84
Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients. Mol Genet Metab Rep (2015) 0.82
Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy. J Inherit Metab Dis (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
Comparative study of idursulfase beta and idursulfase in vitro and in vivo. J Hum Genet (2016) 0.81
CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome). JCI Insight (2016) 0.81
Mucopolysaccharidosis Type II and the G374sp Mutation. Mol Syndromol (2013) 0.81
Successful noninvasive ventilation and enzyme replacement therapy in an adult patient with morbus hunter. JIMD Rep (2011) 0.80
Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II. Mol Genet Metab Rep (2017) 0.77
A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients. Korean J Pediatr (2012) 0.77
Topical enzyme-replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase-1-deficient skin grafts. Am J Hum Genet (2013) 0.76
Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase. JIMD Rep (2011) 0.75
Plasmatic and Urinary Glycosaminoglycans Characterization in Mucopolysaccharidosis II Patient Treated with Enzyme-Replacement Therapy with Idursulfase. JIMD Rep (2011) 0.75
The factors affecting lipid profile in adult patients with Mucopolysaccharidosis. Mol Genet Metab Rep (2017) 0.75
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature. Clin Rheumatol (2013) 0.75
Template synthesis of test tube nanoparticles using non-destructive replication. Nanotechnology (2013) 0.75
Bioinformatic Analysis of the Human Recombinant Iduronate 2-Sulfate Sulfatase. Open Microbiol J (2016) 0.75
Plasmatic kinetics of dermatan sulfate during enzyme replacement therapy with iduronate-2-sulfatase in a mucopolysaccharidosis II patient. Glycoconj J (2013) 0.75
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS). Orphanet J Rare Dis (2017) 0.75
The prevalence of primary open-angle glaucoma in Japanese: the Tajimi Study. Ophthalmology (2004) 4.95
Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA (2006) 4.51
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr (2004) 3.86
Randomized trial of vitamin D supplementation to prevent seasonal influenza A in schoolchildren. Am J Clin Nutr (2010) 3.31
The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med (2003) 3.28
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet (2002) 2.94
Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry. Lancet (2013) 2.82
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics (2009) 2.44
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab (2006) 2.27
Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case. Mol Genet Metab (2010) 2.23
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry. Circulation (2007) 1.86
The Tajimi Study report 2: prevalence of primary angle closure and secondary glaucoma in a Japanese population. Ophthalmology (2005) 1.75
Possibility of islet transplantation from a nonheartbeating donor pancreas resuscitated by the two-layer method. Transplantation (2005) 1.65
Predicting success of prospective and retrospective gating with dual-source coronary computed tomography angiography: development of selection criteria and initial experience. J Cardiovasc Comput Tomogr (2008) 1.63
Moving beyond binary grading of coronary arterial stenoses on coronary computed tomographic angiography: insights for the imager and referring clinician. JACC Cardiovasc Imaging (2008) 1.63
Consequence of climate mitigation on the risk of hunger. Environ Sci Technol (2015) 1.62
Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature. Genet Med (2003) 1.62
Significant increase of serum high-mobility group box chromosomal protein 1 levels in patients with severe acute pancreatitis. Pancreas (2006) 1.58
Improved outcome of surgical pulmonary embolectomy by aggressive intervention for critically ill patients. Ann Thorac Surg (2011) 1.57
The antidiabetic drug metformin inhibits gastric cancer cell proliferation in vitro and in vivo. Mol Cancer Ther (2012) 1.57
Degradation of amyotrophic lateral sclerosis-linked mutant Cu,Zn-superoxide dismutase proteins by macroautophagy and the proteasome. J Biol Chem (2006) 1.57
Dual-source coronary computed tomography angiography in patients with atrial fibrillation: initial experience. J Cardiovasc Comput Tomogr (2008) 1.56
Image quality and artifacts in coronary CT angiography with dual-source CT: initial clinical experience. J Cardiovasc Comput Tomogr (2008) 1.56
Steroid permeation into the artificial ulcer by combined steroid gel application and balloon dilatation: prevention of esophageal stricture. J Gastroenterol Hepatol (2013) 1.55
Growth charts for patients affected with Morquio A disease. Am J Med Genet A (2008) 1.54
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet (2005) 1.51
Human mesenchymal stem cells in rodent whole-embryo culture are reprogrammed to contribute to kidney tissues. Proc Natl Acad Sci U S A (2005) 1.48
Pathophysiology of urinary incontinence in murine models. Int J Urol (2012) 1.48
X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan. J Hum Genet (2010) 1.47
Neutrophil elastase inhibitor, sivelestat, attenuates acute lung injury after cardiopulmonary bypass in the rabbit endotoxemia model. Ann Thorac Surg (2007) 1.45
Automated quantitation of pericardiac fat from noncontrast CT. Invest Radiol (2008) 1.45
Platelet preservation with a glycoprotein IIb/IIIa inhibitor in a porcine cardiopulmonary bypass model. Ann Thorac Surg (2005) 1.40
Immunohistochemically detected expression of 3 major genes (CDKN2A/p16, TP53, and SMAD4/DPC4) strongly predicts survival in patients with resectable pancreatic cancer. Ann Surg (2013) 1.39
Hemoglobin Hammersmith [beta 42(CD1) Phe --> Ser] causing severe hemolytic anemia in a Japanese girl. Pediatr Blood Cancer (2006) 1.39
Female urology: what method will you select? Int J Urol (2009) 1.39
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol (2004) 1.36
The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years. Heart Fail Clin (2010) 1.34
Annexin A2 expression and phosphorylation are up-regulated in hepatocellular carcinoma. Int J Oncol (2008) 1.33
Enzyme replacement therapy in a murine model of Morquio A syndrome. Hum Mol Genet (2007) 1.32
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. Neurogenetics (2013) 1.32
Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan. Mol Genet Metab (2012) 1.30
Calpain-mediated X-linked inhibitor of apoptosis degradation in neutrophil apoptosis and its impairment in chronic neutrophilic leukemia. J Biol Chem (2002) 1.29
Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry. Am Heart J (2008) 1.29
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet (2009) 1.28
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Hum Mutat (2005) 1.27
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet (2003) 1.27
Corneal thickness in an ophthalmologically normal Japanese population. Ophthalmology (2005) 1.26
Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder. Mol Genet Metab (2013) 1.26
Algorithm for radiation dose reduction with helical dual source coronary computed tomography angiography in clinical practice. J Cardiovasc Comput Tomogr (2008) 1.24
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics (2008) 1.23
Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr (2012) 1.20
Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey. Genet Med (2011) 1.18
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. Pediatr Res (2004) 1.16
Carcinosarcoma of the gallbladder with chondroid differentiation. J Gastroenterol (2002) 1.15
Newborn screening and diagnosis of mucopolysaccharidoses. Mol Genet Metab (2013) 1.13
Influence of antibody formation on reduction of globotriaosylceramide (GL-3) in urine from Fabry patients during agalsidase beta therapy. Mol Genet Metab (2007) 1.13
Significant elevation of serum interleukin-18 levels in patients with acute pancreatitis. J Gastroenterol (2006) 1.12
Antioxidant activity of polyphenols in carob pods. J Agric Food Chem (2002) 1.12
Infective endocarditis with cerebrovascular complications: timing of surgical intervention. Interact Cardiovasc Thorac Surg (2011) 1.11
Defining the pathway for Tat-mediated delivery of beta-glucuronidase in cultured cells and MPS VII mice. Mol Ther (2005) 1.10
Expression of receptor for advanced glycation end products (RAGE) and MMP-9 in human pancreatic cancer cells. Hepatogastroenterology (2004) 1.10
Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome. Mol Ther (2010) 1.10
Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry. J Inherit Metab Dis (2010) 1.09
Specifications of insilicoML 1.0: a multilevel biophysical model description language. J Physiol Sci (2008) 1.08
Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease. Hum Mol Genet (2003) 1.08
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. J Inherit Metab Dis (2010) 1.08
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. Am J Hum Genet (2002) 1.07
Laparoscopically resected foregut duplication cyst (bronchogenic) of the stomach. Dig Dis Sci (2007) 1.05
N-octyl-beta-valienamine up-regulates activity of F213I mutant beta-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease. Biochim Biophys Acta (2004) 1.05
Significance of screening for Fabry disease among male dialysis patients. Clin Exp Nephrol (2005) 1.05
Brain transplantation of genetically engineered human neural stem cells globally corrects brain lesions in the mucopolysaccharidosis type VII mouse. J Neurosci Res (2003) 1.05
Rectal perforations and fistulae secondary to a glycerin enema: closure by over-the-scope-clip. World J Gastroenterol (2012) 1.05
Giant polypoid basal cell carcinoma with features of fibroepithelioma of Pinkus and extensive cornification. Eur J Dermatol (2004) 1.04
Resection of gallbladder cancer with hepatic metastasis after chemotherapy with gemcitabine. J Hepatobiliary Pancreat Surg (2008) 1.04
The crucial role of caspase-9 in the disease progression of a transgenic ALS mouse model. EMBO J (2003) 1.04
Climate change impact and adaptation assessment on food consumption utilizing a new scenario framework. Environ Sci Technol (2013) 1.03
Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene. Genet Med (2003) 1.03
Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography. Cardiovasc Diabetol (2007) 1.03
Telomerase overexpression in K562 leukemia cells protects against apoptosis by serum deprivation and double-stranded DNA break inducing agents, but not against DNA synthesis inhibitors. Cancer Lett (2002) 1.03
Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels. Mol Genet Metab (2013) 1.02
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. Mol Genet Metab (2008) 1.01
Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J Pediatr (2003) 1.01
Successful closing of duodenal ulcer after endoscopic submucosal dissection with over-the-scope clip to prevent delayed perforation. Dig Endosc (2012) 1.01
Clinical characteristics and leakage of functioning blebs after trabeculectomy with mitomycin-C in primary glaucoma patients. Ophthalmology (2003) 1.00
Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. Radiology (2005) 1.00
Novel technique using intravascular ultrasound-guided guidewire cross in coronary intervention for uncrossable chronic total occlusions. Circ J (2004) 1.00
Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet A (2004) 1.00
TNFalpha induces rapid activation and nuclear translocation of telomerase in human lymphocytes. Biochem Biophys Res Commun (2004) 1.00
Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. Hum Mutat (2004) 1.00
Reduced alpha-Gal A enzyme activity in Fabry fibroblast cells and Fabry mice tissues induced by serum from antibody positive patients with Fabry disease. Mol Genet Metab (2008) 1.00