Published in J Bone Miner Res on January 01, 2007
A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1. Blood (2010) 2.38
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. J Inherit Metab Dis (2008) 1.41
Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med (2009) 1.34
Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet (2008) 1.16
Review of the safety and efficacy of imiglucerase treatment of Gaucher disease. Biologics (2009) 1.14
A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol (2011) 1.12
Reducing selection bias in case-control studies from rare disease registries. Orphanet J Rare Dis (2011) 1.09
Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J Inherit Metab Dis (2012) 1.06
Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse. PLoS One (2011) 1.06
An overview on bone manifestations in Gaucher disease. Wien Med Wochenschr (2010) 1.02
Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. Br J Haematol (2009) 1.00
Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr (2012) 0.98
Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Mol Dis (2010) 0.95
Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat. Skeletal Radiol (2014) 0.90
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients. Orphanet J Rare Dis (2012) 0.89
Gaucher disease: a systematic review and meta-analysis of bone complications and their response to treatment. J Inherit Metab Dis (2010) 0.87
Substrate reduction therapy with miglustat for type 1 Gaucher disease: a retrospective analysis from a single institution. Ups J Med Sci (2012) 0.86
Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr Endocrinol Rev (2014) 0.85
Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3). Orphanet J Rare Dis (2015) 0.83
Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease: results from the NCS-LSD cohort study. J Inherit Metab Dis (2014) 0.82
Long-term effectiveness of enzyme replacement therapy in adults with Gaucher disease: results from the NCS-LSD cohort study. J Inherit Metab Dis (2014) 0.80
Profile of eliglustat tartrate in the management of Gaucher disease. Ther Clin Risk Manag (2016) 0.80
Bone turnover markers in patients with type 1 Gaucher disease. Hematol Rep (2012) 0.78
Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1. Orphanet J Rare Dis (2015) 0.76
Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report. J Med Case Rep (2017) 0.75
Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide. JIMD Rep (2015) 0.75
Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report. J Med Case Rep (2016) 0.75
Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy. Core Evid (2016) 0.75
Clinical manifestations and management of Gaucher disease. Clin Cases Miner Bone Metab (2015) 0.75
Velaglucerase alfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease: Long-term data from phase III clinical trials. Am J Hematol (2015) 0.75
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int J Mol Sci (2017) 0.75
Vertebral fractures in Gaucher disease type I: data from the French "Observatoire" on Gaucher disease (FROG). Osteoporos Int (2010) 0.75
Intravenous bisphosphonate treatment and pregnancy: its effects on mother and infant bone health. Osteoporos Int (2010) 0.75
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
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 underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am J Hematol (2009) 2.79
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab (2007) 2.51
Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases. JAMA (2007) 2.51
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med (2002) 2.44
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
Height adjustment in assessing dual energy x-ray absorptiometry measurements of bone mass and density in children. J Clin Endocrinol Metab (2010) 2.29
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
Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics (2008) 2.20
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
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med (2006) 1.87
Effects of enzyme replacement therapy in Fabry disease--a comprehensive review of the medical literature. Genet Med (2010) 1.65
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells Mol Dis (2009) 1.54
Enzyme replacement therapy in Fabry disease: comparison of agalsidase alfa and agalsidase beta. Mol Genet Metab (2008) 1.52
The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med (2006) 1.50
90Y-edotreotide for metastatic carcinoid refractory to octreotide. J Clin Oncol (2010) 1.49
Patients with Fabry disease on dialysis in the United States. Kidney Int (2002) 1.42
Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood (2005) 1.41
Osteonecrosis in a patient with Gaucher's disease treated with enzyme replacement. Isr Med Assoc J (2003) 1.41
Life expectancy in Gaucher disease type 1. Am J Hematol (2008) 1.40
Uveitis in Gaucher disease. Am J Ophthalmol (2005) 1.39
Cardiovascular abnormalities, interventions, and long-term outcomes in infantile Williams syndrome. J Pediatr (2009) 1.36
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol (2004) 1.36
Increased incidence of Parkinson disease among relatives of patients with Gaucher disease. Blood Cells Mol Dis (2006) 1.34
Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med (2009) 1.34
Long-term outcomes of patients with cardiovascular abnormalities and williams syndrome. Am J Cardiol (2010) 1.30
Cross-calibration and minimum precision standards for dual-energy X-ray absorptiometry: the 2005 ISCD Official Positions. J Clin Densitom (2006) 1.30
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr (2004) 1.24
Iodofiltic acid I 123 (BMIPP) fatty acid imaging improves initial diagnosis in emergency department patients with suspected acute coronary syndromes: a multicenter trial. J Am Coll Cardiol (2010) 1.22
Calcium supplementation and bone mineral density in females from childhood to young adulthood: a randomized controlled trial. Am J Clin Nutr (2005) 1.21
The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry. Blood Cells Mol Dis (2010) 1.21
Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr (2012) 1.20
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet (2008) 1.19
A plant-derived recombinant human glucocerebrosidase enzyme--a preclinical and phase I investigation. PLoS One (2009) 1.19
Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies. Clin Ther (2007) 1.18
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr (2003) 1.16
Review of the safety and efficacy of imiglucerase treatment of Gaucher disease. Biologics (2009) 1.14
Gastrointestinal disturbances and their management in miglustat-treated patients. J Inherit Metab Dis (2011) 1.14
Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease. Blood Cells Mol Dis (2002) 1.13
Therapeutic goals in the treatment of Fabry disease. Genet Med (2010) 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
Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement. Blood (2007) 1.09
Reducing selection bias in case-control studies from rare disease registries. Orphanet J Rare Dis (2011) 1.09
Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev (2013) 1.09
Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med (2005) 1.08
New directions in the treatment of Gaucher disease. Trends Pharmacol Sci (2004) 1.07
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
Monitoring of Gaucher patients with a novel chitotriosidase assay. Clin Chim Acta (2007) 1.05
Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment. Genet Med (2009) 1.05
Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy. J Inherit Metab Dis (2010) 1.04
X-ray technologists' reproducibility from automated measurements of the medial tibiofemoral joint space width in knee osteoarthritis for a multicenter, multinational clinical trial. J Rheumatol (2003) 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
Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs. Am J Med Genet A (2005) 1.02
Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol Online J (2009) 1.02
Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet Med (2005) 1.02
Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease. J Pediatr (2010) 1.02
Tracking of bone mass and density during childhood and adolescence. J Clin Endocrinol Metab (2010) 1.02
A validated disease severity scoring system for adults with type 1 Gaucher disease. Genet Med (2010) 1.01
Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. Hum Mutat (2007) 1.00
Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study. Blood Cells Mol Dis (2013) 0.99
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. Am J Med Genet A (2010) 0.99
Effect of enzyme replacement therapy on gammopathies in Gaucher disease. Blood Cells Mol Dis (2004) 0.98
Using the International Gaucher Disease Registry data: can we devise a virtuous circle for treated patients? Am J Hematol (2008) 0.98
Orthopedic considerations in Gaucher disease since the advent of enzyme replacement therapy. Acta Orthop Scand (2004) 0.98
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Am J Hematol (2013) 0.97
Lentiviral gene delivery to CNS by spinal intrathecal administration to neonatal mice. J Gene Med (2006) 0.96
Anderson-Fabry disease: extrarenal, neurologic manifestations. J Am Soc Nephrol (2002) 0.96
Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Mol Dis (2010) 0.95
Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study. Am J Hematol (2013) 0.93
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. Hum Mutat (2005) 0.92
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease. Am J Hematol (2013) 0.91
Computerized cognitive testing in patients with type I Gaucher disease: effects of enzyme replacement and substrate reduction. Genet Med (2005) 0.91
Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation. Am J Hematol (2012) 0.90
Increased prevalence of cholelithiasis in Gaucher disease: association with splenectomy but not with gilbert syndrome. J Clin Gastroenterol (2004) 0.90
A safety trial of high dose glyceryl triacetate for Canavan disease. Mol Genet Metab (2011) 0.90
Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur J Pediatr (2003) 0.90
The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med (2005) 0.90
Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat. Skeletal Radiol (2014) 0.90
Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs. Mol Genet Metab (2010) 0.89
Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years. Br J Haematol (2012) 0.88
Spectrum of abdominal sonographic findings in 103 pediatric patients with Gaucher disease. Eur Radiol (2001) 0.88
Disease severity in sibling pairs with type 1 Gaucher disease. J Inherit Metab Dis (2010) 0.88