Published in Mol Genet Metab on September 29, 2006
Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid. Mol Genet Metab (2007) 1.71
Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I. J Clin Invest (2008) 1.70
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis (2011) 1.54
Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice. Mol Genet Metab (2008) 1.45
Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I. Sci Transl Med (2010) 1.38
Gene therapy for mucopolysaccharidosis. Expert Opin Biol Ther (2007) 1.28
Pathogenesis of aortic dilatation in mucopolysaccharidosis VII mice may involve complement activation. Mol Genet Metab (2011) 1.27
Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression. Mol Genet Metab (2009) 1.25
Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I. Mol Genet Metab (2010) 1.17
Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy. Mol Genet Metab (2008) 1.15
Genistein-mediated inhibition of glycosaminoglycan synthesis, which corrects storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epidermal growth factor-dependent pathway. J Biomed Sci (2009) 1.14
Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med (2010) 1.11
Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients. Curr Ther Res Clin Exp (2008) 1.09
Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans. J Inherit Metab Dis (2012) 1.09
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment. Genet Mol Biol (2010) 1.07
Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients. J Inherit Metab Dis (2010) 1.04
Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP). J Inherit Metab Dis (2011) 1.04
Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol Online J (2009) 1.02
The natural history of MPS I: global perspectives from the MPS I Registry. Genet Med (2014) 1.02
Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II. J Inherit Metab Dis (2010) 1.02
Sleep-related breathing in children with mucopolysaccharidosis. J Inherit Metab Dis (2009) 0.98
A self-inactivating gamma-retroviral vector reduces manifestations of mucopolysaccharidosis I in mice. Mol Ther (2009) 0.97
Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses. Eur J Hum Genet (2009) 0.96
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life. Orphanet J Rare Dis (2013) 0.96
Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I. J Inherit Metab Dis (2007) 0.92
Neonatal Systemic AAV Induces Tolerance to CNS Gene Therapy in MPS I Dogs and Nonhuman Primates. Mol Ther (2015) 0.92
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan. Orphanet J Rare Dis (2013) 0.91
Biodistribution and pharmacodynamics of recombinant human alpha-L-iduronidase (rhIDU) in mucopolysaccharidosis type I-affected cats following multiple intrathecal administrations. Mol Genet Metab (2011) 0.90
Postmortem studies on a patient with mucopolysaccharidosis type I: histopathological findings after one year of enzyme replacement therapy. J Inherit Metab Dis (2009) 0.90
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships. Orphanet J Rare Dis (2015) 0.89
Liver-directed gene therapy corrects cardiovascular lesions in feline mucopolysaccharidosis type I. Proc Natl Acad Sci U S A (2014) 0.89
Characterization of knee alignment in children with mucopolysaccharidosis types I and II and outcome of treatment with guided growth. J Child Orthop (2015) 0.88
alpha-L-iduronidase therapy for mucopolysaccharidosis type I. Biologics (2008) 0.87
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. Orphanet J Rare Dis (2012) 0.86
Evidence of a progressive motor dysfunction in Mucopolysaccharidosis type I mice. Behav Brain Res (2012) 0.86
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network. Genet Mol Biol (2013) 0.84
Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I. JIMD Rep (2013) 0.84
Growth patterns and the use of growth hormone in the mucopolysaccharidoses. J Pediatr Rehabil Med (2010) 0.83
Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world. J Inherit Metab Dis (2011) 0.82
Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice. J Inherit Metab Dis (2010) 0.82
The effect of neonatal gene therapy on skeletal manifestations in mucopolysaccharidosis VII dogs after a decade. Mol Genet Metab (2013) 0.81
Genistein increases glycosaminoglycan levels in mucopolysaccharidosis type I cell models. J Inherit Metab Dis (2014) 0.81
Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. PLoS One (2016) 0.80
A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage Disorders. JIMD Rep (2012) 0.80
Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases. J Inherit Metab Dis (2011) 0.80
Glycosaminoglycan metabolism defects and atherosclerosis: frequent association of endothelial dysfunction in patients with Mucopolysaccharidosis. J Inherit Metab Dis (2013) 0.79
Postnatal progression of bone disease in the cervical spines of mucopolysaccharidosis I dogs. Bone (2013) 0.79
12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment. BMC Med Genet (2016) 0.79
The effect of neonatal gene therapy with a gamma retroviral vector on cardiac valve disease in mucopolysaccharidosis VII dogs after a decade. Mol Genet Metab (2013) 0.78
Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs. PLoS One (2016) 0.78
Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues. Orphanet J Rare Dis (2016) 0.78
Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy. Genet Mol Biol (2011) 0.78
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
Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model. JIMD Rep (2015) 0.76
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series. Orphanet J Rare Dis (2016) 0.75
Cardiovascular Abnormalities in Egyptian Children with Mucopolysaccharidoses. J Clin Diagn Res (2016) 0.75
The effect of Tlr4 and/or C3 deficiency and of neonatal gene therapy on skeletal disease in mucopolysaccharidosis VII mice. Mol Genet Metab (2014) 0.75
Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC. Dis Model Mech (2016) 0.75
Mannose 6-phosphate conjugation is not sufficient to allow induction of immune tolerance to phenylalanine ammonia-lyase in dogs. JIMD Rep (2012) 0.75
Laronidase replacement therapy and left ventricular function in mucopolysaccharidosis I. JIMD Rep (2014) 0.75
The transforming growth factor-Beta signaling pathway involvement in cardiovascular lesions in mucopolysaccharidosis-I. JIMD Rep (2012) 0.75
Effects of enzyme replacement therapy started late in a murine model of mucopolysaccharidosis type I. PLoS One (2015) 0.75
Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS. Pediatr Rheumatol Online J (2014) 0.75
[Lysosomal storage diseases]. Z Rheumatol (2010) 0.75
Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis. PLoS One (2017) 0.75
Substrate Deprivation Therapy to Reduce Glycosaminoglycan Synthesis Improves Aspects of Neurological and Skeletal Pathology in MPS I Mice. Diseases (2017) 0.75
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
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
Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). Pediatrics (2007) 2.22
Hemodynamic changes after protamine administration: association with mortality after coronary artery bypass surgery. Anesthesiology (2005) 2.22
The effects of tamoxifen and estrogen on brain metabolism in elderly women. J Natl Cancer Inst (2002) 2.14
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab (2008) 2.04
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
Smaller subcortical volumes and cognitive deficits in children with prenatal methamphetamine exposure. Psychiatry Res (2004) 1.78
The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases. Orphanet J Rare Dis (2011) 1.72
Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I. J Clin Invest (2008) 1.70
Patient outcomes and thoracic aortic volume and morphologic changes following thoracic endovascular aortic repair in patients with complicated chronic type B aortic dissection. J Vasc Surg (2012) 1.70
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
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
Deferasirox, an iron-chelating agent, as salvage therapy for rhinocerebral mucormycosis. Antimicrob Agents Chemother (2006) 1.40
The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years. Heart Fail Clin (2010) 1.34
Persistent brain abnormalities in antiretroviral-naive HIV patients 3 months after HAART. Antivir Ther (2003) 1.34
Increased anterior cingulate/medial prefrontal cortical glutamate and creatine in bipolar depression. Neuropsychopharmacology (2007) 1.33
Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). Mol Genet Metab (2010) 1.30
Mutational analysis of 105 mucopolysaccharidosis type VI patients. Hum Mutat (2007) 1.30
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
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J Pediatr (2009) 1.27
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet (2003) 1.27
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
Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I. Lancet (2003) 1.13
Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med (2010) 1.11
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. J Inherit Metab Dis (2010) 1.08
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Inherit Metab Dis (2010) 1.06
Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene. Genet Med (2003) 1.03
Risk factors of neurologic deficit after thoracic aortic endografting. Ann Thorac Surg (2007) 1.03
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
Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. Radiology (2005) 1.00
Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet A (2004) 1.00
Complications of endovascular repair of high-risk and emergent descending thoracic aortic aneurysms and dissections. J Vasc Surg (2004) 1.00
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. Am J Hum Genet (2002) 1.00
Competing risks for death and cardiac transplantation in children with dilated cardiomyopathy: results from the pediatric cardiomyopathy registry. Circulation (2011) 0.98
Midterm results of endovascular treatment of complicated acute type B aortic dissection. J Thorac Cardiovasc Surg (2009) 0.97
The role of aortic neck dilation and elongation in the etiology of stent graft migration after endovascular abdominal aortic aneurysm repair with a passive fixation device. J Vasc Surg (2006) 0.96
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat (2014) 0.95
Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry. Am Heart J (2012) 0.93
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). Am J Surg Pathol (2012) 0.93
Arterial pathology in canine mucopolysaccharidosis-I and response to therapy. Lab Invest (2011) 0.93
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion. PLoS One (2011) 0.92
Endograft exclusion of acute and chronic descending thoracic aortic dissections. J Vasc Surg (2006) 0.90
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. Hum Genet (2008) 0.90
Endovascular abdominal aortic aneurysm repair using the AneuRx stent graft: impact of excluding accessory renal arteries. Ann Vasc Surg (2004) 0.88
Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? Am J Med Genet A (2007) 0.87
Sibling phenotype concordance in classical infantile Pompe disease. Am J Med Genet A (2007) 0.86
Eye injuries in rural Victoria, Australia. Clin Experiment Ophthalmol (2009) 0.86
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. J Neuroophthalmol (2014) 0.86
Hoarding behaviors among nonclinical elderly adults: correlations with hoarding cognitions, obsessive-compulsive symptoms, and measures of general psychopathology. J Anxiety Disord (2011) 0.86
High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry. J Pediatr Surg (2012) 0.86
Accuracy of three-dimensional simulation in the sizing of aortic endoluminal devices. Ann Vasc Surg (2003) 0.85
Source document verification in the Mucopolysaccharidosis Type I Registry. Pharmacoepidemiol Drug Saf (2011) 0.84
Endovascular exclusion of abdominal aortic pathology in patients with concomitant malignancy. Ann Vasc Surg (2002) 0.83
Hereditary multiple exostoses with spine involvement in a 4-year-old boy. Am J Med Genet A (2010) 0.83
Risk factors for early and late mortality after thoracic endovascular aortic repair. J Thorac Cardiovasc Surg (2008) 0.83
Volume regression of abdominal aortic aneurysms and its relation to successful endoluminal exclusion. J Vasc Surg (2003) 0.81
Intravascular ultrasound. Semin Vasc Surg (2012) 0.81
Distribution of intimomedial tears in patients with type B aortic dissection. J Vasc Surg (2010) 0.81
Physical performance testing in mucopolysaccharidosis I: a pilot study. Pediatr Rehabil (2004) 0.81
Prospective evaluation of a clinical practice guideline for diagnosis of appendicitis in children. Acad Emerg Med (2012) 0.81
Intraprocedural imaging: thoracic aortography techniques, intravascular ultrasound, and special equipment. J Vasc Surg (2006) 0.80
CRB1: one gene, many phenotypes. Semin Ophthalmol (2013) 0.80
A physical performance measure for individuals with mucopolysaccharidosis type I. Dev Med Child Neurol (2006) 0.78
Late-onset type II endoleaks and the incidence of secondary intervention. Ann Vasc Surg (2004) 0.77
Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency. Am J Surg Pathol (2016) 0.75
Mannose 6-phosphate conjugation is not sufficient to allow induction of immune tolerance to phenylalanine ammonia-lyase in dogs. JIMD Rep (2012) 0.75
Endovascular exclusion of leaking thoracic aortic aneurysms. J Endovasc Ther (2002) 0.75
Stent-graft migration following endovascular repair of aneurysms with large proximal necks: anatomical risk factors and long-term sequelae. J Endovasc Ther (2002) 0.75
Automated Identification of Innocent Still's Murmur in Children. IEEE Trans Biomed Eng (2016) 0.75
Cardiac Registry screening for DiGeorge Critical Region deletion using loss of heterozygosity analysis. Pediatr Dev Pathol (2006) 0.75
Reducing peritonitis rates in a peritoneal dialysis program of indigent ethnic minorities. Perit Dial Int (2003) 0.75
Postinfectious encephalitis: a coregistered SPECT and magnetic resonance imaging study. Clin Nucl Med (2002) 0.75
Comparison of Neurocognitive Outcomes after Carotid Endarterectomy and Carotid Artery Stenting. Am Surg (2015) 0.75
Regression of a descending thoracoabdominal aortic dissection following staged deployment of thoracic and abdominal aortic endografts. J Endovasc Ther (2002) 0.75