Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher diseaseN Weinreb
University Research Foundation for Lysosomal Storage Diseases, Coral Springs, FL 33065, USA
Clin Genet 71:576-88. 2007
..Imiglucerase treatment has a significant positive impact on HRQOL of type 1 GD patients with skeletal disease, including those with bone infarctions, lytic lesions, and avascular necrosis...
A validated disease severity scoring system for adults with type 1 Gaucher diseaseNeal J Weinreb
University Research Foundation for Lysosomal Storage Disorders, Coral Springs, FL 33065, USA
Genet Med 12:44-51. 2010
..A validated disease severity scoring system (DS3) for Gaucher disease type 1 (GD1) is needed to standardize patient monitoring and to define patient cohorts in clinical studies...
- Causes of death due to hematological and non-hematological cancers in 57 US patients with type 1 Gaucher Disease who were never treated with enzyme replacement therapy
Neal J Weinreb
University Research Foundation for Lysosomal Storage Diseases, Boca Raton, Florida 33433, USA
Crit Rev Oncog 18:177-95. 2013
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Reducing selection bias in case-control studies from rare disease registriesJ Alexander Cole
Biomedical Data Sciences and Informatics, Genzyme, a Sanofi Company, 500 Kendall Street, Cambridge, MA 02142, USA
Orphanet J Rare Dis 6:61. 2011
..Data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry were used as an example...
- A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase
Neal Weinreb
University Research Foundation for Lysosomal Storage Diseases, Northwest Oncology Hematology Associates PA, Coral Springs, Florida 33065, USA
Am J Hematol 83:890-5. 2008
..This analysis provides a benchmark for evaluating the utility of a disease management approach for GD1 based on monitoring achievement of therapeutic goals after treatment with imiglucerase...
- Imiglucerase and its use for the treatment of Gaucher's disease
Neal J Weinreb
University Research Foundation for Lysosomal Storage Diseases, Inc, Northwest Oncology Hematology Associates PA, 8170 Royal Palm Boulevard, Coral Springs, FL 33065, USA
Expert Opin Pharmacother 9:1987-2000. 2008
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- Guidance on the use of miglustat for treating patients with type 1 Gaucher disease
Neal J Weinreb
University Research Foundation for Lysosomal Storage Diseases and Northwest Oncology Hematology Associates PA, Coral Springs, Florida
Am J Hematol 80:223-9. 2005
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- 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
Neal J Weinreb
Department of Medicine, University Hospital, Tamarac, Florida 33321, USA
Am J Med 113:112-9. 2002
..Previous studies in relatively small numbers of patients demonstrated short-term efficacy of this treatment. This study describes the effects of 2 to 5 years of treatment on specific manifestations of type 1 Gaucher disease...
- Individualization of long-term enzyme replacement therapy for Gaucher disease
Hans C Andersson
Human Genetics Program, Hayward Genetics Center, Tulane University Medical School, New Orleans, Louisiana, USA
Genet Med 7:105-10. 2005
..In this review, we present recommendations for initial imiglucerase treatment and subsequent dose adjustments based on a schedule of regular assessment and monitoring, and achievement and maintenance of defined therapeutic goals...
- Therapeutic goals in the treatment of Gaucher disease
Gregory M Pastores
Neurology in Pediatrics, Neurgenetics Unit, Department of Neurology, New York University School of Medicine, NY, USA
Semin Hematol 41:4-14. 2004
..Here we establish goals of treatment in Gaucher disease and propose a comprehensive schedule of monitoring of all relevant aspects to confirm the achievement, maintenance, and continuity of the therapeutic response...
- Gaucher disease and cancer incidence: a study from the Gaucher Registry
Barry E Rosenbloom
Tower Hematology Oncology Medical Group, Beverly Hills, CA 90211, USA
Blood 105:4569-72. 2005
..However, there appears to be a significantly higher risk of multiple myeloma of which physicians should be aware when caring for these patients...
- Prevalence of type 1 Gaucher disease in the United States
Neal J Weinreb
Arch Intern Med 168:326-7; author reply 327-8. 2008
- Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients
Neal J Weinreb
University Research Foundation for Lysosomal Storage Diseases, Department of Medicine, University Hospital, Tamarac, FL, USA
Semin Hematol 41:15-22. 2004
..Additionally, reassessment should be performed whenever enzyme therapy dose is altered, or in case of significant clinical complication...
- Introduction. Advances in Gaucher Disease: therapeutic goals and evaluation and monitoring guidelines
Neal J Weinreb
International Collaborative Gaucher Group, University Research Foundation for Lysosomal Storage Diseases, Inc, Coral Springs, FL, USA
Semin Hematol 41:1-3. 2004
- Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations
Joel Charrow
Division of Genetics, Children's Memorial Hospital and the Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60614, USA
J Pediatr 144:112-20. 2004
