Published in J Inherit Metab Dis on June 02, 2010
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis (2011) 1.70
Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr (2012) 1.20
The natural history of MPS I: global perspectives from the MPS I Registry. Genet Med (2014) 1.02
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment. Mol Genet Metab (2015) 0.87
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
Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I. Ann Otol Rhinol Laryngol (2014) 0.79
Retroviral-vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits. J Inherit Metab Dis (2012) 0.78
The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences. Mol Genet Metab Rep (2016) 0.75
Early disease progression of Hurler syndrome. Orphanet J Rare Dis (2017) 0.75
Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series. Int J Mol Sci (2016) 0.75
Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree. Mol Genet Metab Rep (2017) 0.75
Prevalence of lysosomal storage disorders. JAMA (1999) 9.06
Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med (2001) 4.28
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
Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics (2009) 2.79
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics (2009) 2.44
The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I. Mol Genet Metab (2007) 2.23
The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Pharmacother (2005) 1.68
Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I. Acta Paediatr (2005) 1.63
A newly recognized forme fruste of Hurler's disease (gargoylism). Am J Ophthalmol (1962) 1.56
Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I. Am J Cardiol (2006) 1.41
Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up. Pediatrics (2009) 1.39
Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry. J Pediatr (2009) 1.13
Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome. Clin Exp Rheumatol (2006) 1.05
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. Mol Genet Metab (2008) 1.01
The iduronidase-deficient mucopolysaccharidoses: clinical and roentgenorgraphic features. Pediatrics (1976) 0.96
Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis? Am J Med Genet A (2008) 0.91
Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA (2006) 4.51
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med (2006) 4.04
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
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr (2007) 3.40
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
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics (2008) 2.61
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics (2009) 2.44
Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res (2009) 2.28
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab (2006) 2.27
The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I. Mol Genet Metab (2007) 2.23
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
Lysosomal alpha-galactosidase controls the generation of self lipid antigens for natural killer T cells. Immunity (2010) 2.09
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
Board certification status and pediatric dentists' practice characteristics. Pediatr Dent (2005) 2.04
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med (2011) 1.89
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am J Hum Genet (2002) 1.88
Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J (2007) 1.87
Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry. Circulation (2007) 1.86
Initial report from the Hunter Outcome Survey. Genet Med (2008) 1.80
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis (2011) 1.67
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
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am J Med Genet A (2005) 1.58
Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr (2006) 1.55
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. J Biol Chem (2007) 1.53
Enzyme replacement therapy in Fabry disease: comparison of agalsidase alfa and agalsidase beta. Mol Genet Metab (2008) 1.52
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
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics (2006) 1.50
Downregulation of alpha-galactosidase A upregulates CD77: functional impact for Fabry nephropathy. Kidney Int (2008) 1.49
Treatment of lysosomal storage disorders : progress with enzyme replacement therapy. Drugs (2007) 1.47
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Hum Mutat (2002) 1.45
The relationship between public causal beliefs and social distance toward mentally ill people. Aust N Z J Psychiatry (2004) 1.42
Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol (2009) 1.40
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. J Biol Chem (2009) 1.39
Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. J Inherit Metab Dis (2013) 1.39
Hunter disease before and during enzyme replacement therapy. Pediatr Neurol (2011) 1.38
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
Comparison of lesion detection and quantitation of tracer uptake between PET from a simultaneously acquiring whole-body PET/MR hybrid scanner and PET from PET/CT. Eur J Nucl Med Mol Imaging (2012) 1.34
Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey. Br J Ophthalmol (2006) 1.32
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr (2003) 1.32
An evaluation framework for funding drugs for rare diseases. Value Health (2012) 1.31
The stigma of mental illness: patients' anticipations and experiences. Int J Soc Psychiatry (2004) 1.30
Disease manifestations and X inactivation in heterozygous females with Fabry disease. Acta Paediatr Suppl (2006) 1.30
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
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus. Eur J Pediatr (2011) 1.27
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet (2003) 1.27
Attractiveness of variations in the smile arc and buccal corridor space as judged by orthodontists and laymen. Angle Orthod (2006) 1.24
Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int J Cardiol (2008) 1.23
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics (2008) 1.23
Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics (2006) 1.20
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
Attitudes of contemporary parents toward behavior management techniques used in pediatric dentistry. Pediatr Dent (2005) 1.16
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. Pediatr Res (2004) 1.16
Diagnosing mucopolysaccharidosis IVA. J Inherit Metab Dis (2013) 1.14
Determinants of the public's preference for social distance from people with schizophrenia. Can J Psychiatry (2003) 1.14
Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol (2002) 1.12
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C. J Inherit Metab Dis (2006) 1.12
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
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat (2010) 1.11
An association study of inflammatory cytokine gene polymorphisms in Fabry disease. Eur Cytokine Netw (2006) 1.07
Clinical and genetic aspects of trigonocephaly: a study of 25 cases. Am J Med Genet A (2003) 1.06
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? Clin Chim Acta (2010) 1.06
IgA nephropathy in two adolescent sisters heterozygous for Fabry disease. Pediatr Nephrol (2006) 1.06
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
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. Am J Med Genet A (2007) 1.06
A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease. Genet Med (2009) 1.04
Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene. Genet Med (2003) 1.03
Molecular order in mucolipidosis II and III nomenclature. Am J Med Genet A (2008) 1.03
Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease. J Pediatr (2010) 1.02
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. Mol Genet Metab (2008) 1.01
Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy--a retrospective analysis from the Fabry Outcome Survey. Clin J Pain (2007) 1.01
Cardiac manifestations of Anderson-Fabry disease in children and adolescents. Acta Paediatr (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
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
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. Am J Med Genet A (2005) 1.00
Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis? Graefes Arch Clin Exp Ophthalmol (2009) 0.99
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. Mol Genet Metab (2011) 0.99
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Mol Genet Metab (2007) 0.98
Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI. Mol Genet Metab (2010) 0.98
Competing risks for death and cardiac transplantation in children with dilated cardiomyopathy: results from the pediatric cardiomyopathy registry. Circulation (2011) 0.98
Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey. Orthop Rev (Pavia) (2010) 0.97
Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity. Am J Med Genet A (2006) 0.97
The heart in Anderson Fabry disease. Z Kardiol (2002) 0.95
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat (2014) 0.95
A validated disease severity scoring system for Fabry disease. Mol Genet Metab (2009) 0.95