The following publications offer current data on the management of Gaucher disease and enzyme replacement therapy (ERT). To view an abstract of one of these publications (and order the complete text) you can go to PubMed.

Grabowski GA, Generosa A, Baldellou B, et al. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr. 2003;163:58-66.

Cabrera-Salazar M, O’Rourke E, Henderson N, et al. Correlation of surrogate markers of Gaucher disease. Implications for long-term follow up of enzyme replacement therapy. Clinica Chimica Acta. 2004;344:101-107.

Westrup R, Bailey L, Grabowski G, et al. Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy. Blood. 2004;104(5):1253-1257.

Young NS, Beris P, Weinreb N. Advances in Gaucher Disease: Therapeutic Goals and Evaluation and Monitoring Guidelines. Seminars in Hematology. 2004;41(4)5; 1-22.

Joel Charrow, M.D., et al. Enzyme Replacement Therapy and Monitoring for Children with Type 1 Gaucher disease: Consensus Recommendations. The Journal of Pediatrics, 2004; 144 (1): 112-120.

Wenstrup RJ, Roca-Espiau M, Weinreb NJ, et al. Skeletal aspects of Gaucher disease: a review. The British Journal of Radiology. 2002; (Suppl 1):A2-A12

Maas M, Poll LW, Terk MR. Imaging and quantifying skeletal involvement in Gaucher disease. The British Journal of Radiology. 2002; (Suppl 1):A13-A24

Wang M-L, Maller E. Case of hepatosplenomegaly. Pediatric Case Reviews. 2002;2(2):1-8.

Charrow J, Andersson HC, Kaplan P, et al. The Gaucher Registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160:2835-2843.

Terk MR, Dardashti S, Liebman HA. Bone marrow response in treated patients with Gaucher disease: evaluation by T1-weighted magnetic resonance images and correlation with reduction in liver and spleen volume. Skeletal Radiol. 2000;29:563-571.

Masek BJ, Sims KB, Bove CM, et al. Quality of life assessment in adults with type 1 Gaucher disease. Qual Life Res. 1999;8(3):263-268.

Charrow, J, Esplin JA, Gribble TJ, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med. 1998;158(16):1754-1760.

Damiano AM, Pastores GM, Ware JE Jr. The health-related quality of life of adults with Gaucher’s disease receiving enzyme replacement therapy: results from a retrospective study. Qual Life Res.1998;7:373-386.

Grabowski GA, Leslie N, Wenstrup R. Enzyme therapy for Gaucher disease: the first 5 years. Blood Reviews. 1998;12:115-133.

Hermann G, Pastores GM, Abdelwahab IF, et al. Gaucher disease: assessment of skeletal involvement and therapeutic responses to enzyme replacement. Skeletal Radiol. 1997;26(12):687-696.

Morales LE. Gaucher’s disease: a review. Ann Pharmacother. 1996;30:381-388.

NIH Technology Assessment Panel on Gaucher Disease. Gaucher disease: current issues in diagnosis and treatment. JAMA. 1996;275:548-553.

Pastores GM, Hermann G, Norton KI, et al. Regression of skeletal changes in type 1 Gaucher disease with enzyme replacement therapy. Skeletal Radiol. 1996;25:485-488.

Pastores GM, Wallenstein S, Desnick RJ, et al. Bone density in type 1 Gaucher disease. J Bone Miner Res. 1996;11(11):1801-1807.

Rosenthal DI, Doppelt SH, Mankin HJ, et al. Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics. 1995;96:629-637.

Grabowski GA, Barton NW, Pastores G, et al. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med. 1995;122:33-39.

Barton NW, Furbish FS, Murray GJ, et al. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci USA. 1990;87:1913-1916.