Published in J Inherit Metab Dis on November 30, 2011
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series. J Inherit Metab Dis (2012) 0.98
Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study. Am J Med Genet A (2014) 0.98
Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses. Orphanet J Rare Dis (2013) 0.96
Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease. J Inherit Metab Dis (2012) 0.84
Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI. J Inherit Metab Dis (2013) 0.82
Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome). JIMD Rep (2014) 0.79
Clinical studies in lysosomal storage diseases: Past, present, and future. Rare Dis (2013) 0.77
Diagnostic and treatment strategies in mucopolysaccharidosis VI. Appl Clin Genet (2015) 0.77
Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series. Mol Genet Metab Rep (2016) 0.77
Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome. JIMD Rep (2016) 0.75
Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome. Orphanet J Rare Dis (2013) 0.75
Allo-immune membranous nephropathy and recombinant aryl sulfatase replacement therapy: a need for tolerance induction therapy. J Am Soc Nephrol (2013) 0.75
A podocyte view of membranous nephropathy: from Heymann nephritis to the childhood human disease. Pflugers Arch (2017) 0.75
Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study. Intractable Rare Dis Res (2017) 0.75
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up. Mol Genet Metab Rep (2017) 0.75
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Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics (2009) 2.44
Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis (2005) 2.40
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
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
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr (2004) 1.94
Mucopolysaccharidosis VI. Orphanet J Rare Dis (2010) 1.87
Initial report from the Hunter Outcome Survey. Genet Med (2008) 1.80
Management guidelines for mucopolysaccharidosis VI. Pediatrics (2007) 1.61
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
Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders--clinical and echocardiographic findings in 64 patients. Eur J Pediatr (1998) 1.54
Standard reference for the six-minute-walk test in healthy children aged 7 to 16 years. Am J Respir Crit Care Med (2007) 1.54
The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses. Cardiol Young (2009) 1.46
Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis (2007) 1.44
Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I. Am J Cardiol (2006) 1.41
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control study. Clin Genet (2009) 1.39
Mutational analysis of 105 mucopolysaccharidosis type VI patients. Hum Mutat (2007) 1.30
Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence. Acta Paediatr (2008) 1.22
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clin Genet (2004) 1.18
The status of hematopoietic stem cell transplantation in lysosomal storage disease. Pediatr Neurol (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
Echocardiographic study of paediatric patients with mucopolysaccharidosis. Cardiol Young (2010) 1.10
Brain MRI in mucopolysaccharidosis: effect of aging and correlation with biochemical findings. Neurology (2007) 1.09
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
Successful management of difficult infusion-associated reactions in a young patient with mucopolysaccharidosis type VI receiving recombinant human arylsulfatase B (galsulfase [Naglazyme]). Pediatrics (2008) 0.93
Clinical outcomes following hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis VI. Mol Genet Metab (2010) 0.91
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
Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med (2007) 3.18
Pompe disease diagnosis and management guideline. Genet Med (2006) 3.03
The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am J Hematol (2009) 2.79
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med (2015) 2.77
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics (2008) 2.61
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab (2007) 2.51
Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis (2012) 2.46
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics (2009) 2.44
A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1. Blood (2010) 2.38
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. Cancer Lett (2006) 2.37
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
Oxidative stress and inflammation in iron-overloaded patients with beta-thalassaemia or sickle cell disease. Br J Haematol (2006) 1.99
Neurological aspects of hyperinsulinism-hyperammonaemia syndrome. Dev Med Child Neurol (2008) 1.91
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med (2011) 1.89
Mucopolysaccharidosis VI. Orphanet J Rare Dis (2010) 1.87
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med (2006) 1.87
Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. Lancet (2013) 1.82
Initial report from the Hunter Outcome Survey. Genet Med (2008) 1.80
Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease. Hepatology (2013) 1.78
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis (2014) 1.73
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
Effects of enzyme replacement therapy in Fabry disease--a comprehensive review of the medical literature. Genet Med (2010) 1.65
Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet J Rare Dis (2011) 1.63
Management guidelines for mucopolysaccharidosis VI. Pediatrics (2007) 1.61
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
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
Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. Pediatr Res (2004) 1.57
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab (2013) 1.57
Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. Genet Med (2009) 1.55
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
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength. J Pediatr (Rio J) (2008) 1.52
Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J Pediatr (2010) 1.52
Enzyme replacement therapy in Fabry disease: comparison of agalsidase alfa and agalsidase beta. Mol Genet Metab (2008) 1.52
Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors. J Genet Couns (2002) 1.51
Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases. Clin Chim Acta (2006) 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
A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr Suppl (2007) 1.49
A phase 2 study of the safety, tolerability, and pharmacodynamics of FBS0701, a novel oral iron chelator, in transfusional iron overload. Blood (2012) 1.49
Patterns of hepatic iron distribution in patients with chronically transfused thalassemia and sickle cell disease. Am J Hematol (2009) 1.48
Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil. Cancer Lett (2008) 1.44
Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. J Bone Miner Res (2007) 1.43
"I'm fine; I'm just waiting for my disease": the new and growing class of presymptomatic patients. Neurology (2011) 1.43
Patients with Fabry disease on dialysis in the United States. Kidney Int (2002) 1.42
Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet (2003) 1.42
Comparison of organ dysfunction in transfused patients with SCD or beta thalassemia. Am J Hematol (2005) 1.41
The effect of deferasirox on cardiac iron in thalassemia major: impact of total body iron stores. Blood (2010) 1.41
Life expectancy in Gaucher disease type 1. Am J Hematol (2008) 1.40
Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. J Inherit Metab Dis (2013) 1.39
Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non-convulsive status epilepticus? Dev Med Child Neurol (2008) 1.39
Morbidity and mortality in chronically transfused subjects with thalassemia and sickle cell disease: A report from the multi-center study of iron overload. Am J Hematol (2007) 1.39
The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am J Med Genet A (2006) 1.37
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol (2004) 1.36
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat (2010) 1.34
Golgi function and dysfunction in the first COG4-deficient CDG type II patient. Hum Mol Genet (2009) 1.32
Mutational analysis of 105 mucopolysaccharidosis type VI patients. Hum Mutat (2007) 1.30
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet (2012) 1.29
Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev (2008) 1.29
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus. Eur J Pediatr (2011) 1.27
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
Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr (2012) 1.26
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet A (2011) 1.26
Screening and treatment for lipid disorders in children and adolescents: systematic evidence review for the US Preventive Services Task Force. Pediatrics (2007) 1.25
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics (2008) 1.23
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. Hum Mol Genet (2011) 1.23
Newborn screening for congenital infectious diseases. Emerg Infect Dis (2004) 1.21
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. Orphanet J Rare Dis (2012) 1.21
Congenital hyperinsulinism. Early Hum Dev (2010) 1.21
Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr (2012) 1.20
International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A (2014) 1.19
Inflammation and oxidant-stress in beta-thalassemia patients treated with iron chelators deferasirox (ICL670) or deferoxamine: an ancillary study of the Novartis CICL670A0107 trial. Haematologica (2008) 1.18
Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey. Genet Med (2011) 1.18
Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry. Genet Med (2010) 1.17
Serum ferritin underestimates liver iron concentration in transfusion independent thalassemia patients as compared to regularly transfused thalassemia and sickle cell patients. Pediatr Blood Cancer (2007) 1.17
Management of chronic viral hepatitis in patients with thalassemia: recommendations from an international panel. Blood (2010) 1.17
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. Mol Genet Metab (2003) 1.17
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. Pediatr Res (2004) 1.16
The effect of vitamins C and E on biomarkers of oxidative stress depends on baseline level. Free Radic Biol Med (2008) 1.15
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies. Orphanet J Rare Dis (2012) 1.15
Diagnosing mucopolysaccharidosis IVA. J Inherit Metab Dis (2013) 1.14
Gastrointestinal disturbances and their management in miglustat-treated patients. J Inherit Metab Dis (2011) 1.14
Genomic rearrangements in BRCA1 and BRCA2: A literature review. Genet Mol Biol (2009) 1.14