SEARCH

SEARCH BY CITATION

References

  • Andersson, H.C., Charrow, J., Kaplan, P., Mistry, P., Pastores, G.M., Prakash-Cheng, A., Rosenbloom, B.E., Scott, C.R., Wappner, R.S. & Weinreb, N.J. (2005) Individualization of long-term enzyme replacement therapy for Gaucher disease. Genetics in Medicine, 7, 105110.
  • Barton, N.W., Brady, R.O., Dambrosia, J.M., Di Bisceglie, A.M., Doppelt, S.H., Hill, S.C., Mankin, H.J., Murray, G.J., Parker, R.I. & Argoff, C.E. (1991) Replacement therapy for inherited enzyme deficiency – macrophage-targeted glucocerebrosidase for Gaucher’s disease. New England Journal of Medicine, 324, 14641470.
  • Bax, B.E., Richfield, L., Bain, M.D., Mehta, A.B., Chalmers, R.A. & Rampling, M.W. (2005) Haemorheology in Gaucher disease. European Journal of Haematology, 75, 252258.
  • Bembi, B., Ciana, G., Mengel, E., Terk, M.R., Martini, C. & Wenstrup, R.J. (2002) Bone complications in children with Gaucher disease. British Journal of Radiology, 75(Suppl. 1), A37A44.
  • Van Breemen, M.J., De Fost, M., Voerman, J.S., Laman, J.D., Boot, R.G., Maas, M., Hollak, C.E., Aerts, J.M. & Rezaee, F. (2007) Increased plasma macrophage inflammatory protein (MIP)-1alpha and MIP-1beta levels in type 1 Gaucher disease. Biochimica et Biophysica Acta, 1772, 788796.
  • Charrow, J., Andersson, H.C., Kaplan, P., Kolodny, E.H., Mistry, P., Pastores, G., Rosenbloom, B.E., Scott, C.R., Wappner, R.S., Weinreb, N.J. & Zimran, A. (2000) The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Archives of Internal Medicine, 160, 28352843.
  • Charrow, J., Dulisse, B., Grabowski, G.A. & Weinreb, N.J. (2007) The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clinical Genetics, 71, 205211.
  • Cox, T.M. & Schofield, J.P. (1997) Gaucher’s disease: clinical features and natural history. Baillieres Clinical Haematology, 10, 657689.
  • Cox, T.M., Aerts, J.M., Belmatoug, N., Cappellini, M.D., Vom Dahl, S., Goldblatt, J., Grabowski, G.A., Hollak, C.E., Hwu, P., Maas, M., Martins, A.M., Mistry, P.K., Pastores, G.M., Tylki-Szymanska, A., Yee, J. & Weinreb, N. (2008) Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. Journal of Inherited Metabolic Disease, 31, 319336.
  • El-Beshlawy, A., Ragab, L., Youssry, I., Yakout, K., El-Kiki, H., Eid, K., Mansour, I.M., Abd El-Hamid, S., Yang, M. & Mistry, P.K. (2006) Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients. Journal of Inherited Metabolic Disease, 29, 9298.
  • Elstein, D., Itzchaki, M. & Mankin, H.J. (1997) Skeletal involvement in Gaucher’s disease. Baillieres Clinical Haematology, 10, 793816.
  • Enquist, I.B., Nilsson, E., Ooka, A., Mansson, J.E., Olsson, K., Ehinger, M., Brady, R.O., Richter, J. & Karlsson, S. (2006) Effective cell and gene therapy in a murine model of Gaucher disease. Proceedings of the National Academy of Sciences of the United States of America, 103, 1381913824.
  • Fleshner, P.R., Aufses, Jr, A.H., Grabowski, G.A. & Elias, R. (1991) A 27-year experience with splenectomy for Gaucher’s disease. American Journal of Surgery, 161, 6975.
  • De Fost, M., Out, T.A., De Wilde, F.A., Tjin, E.P., Pals, S.T., Van Oers, M.H., Boot, R.G., Aerts, J.F., Maas, M., Vom Dahl, S. & Hollak, C.E. (2008) Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature. Annals of Hematology, 87, 439449.
  • Grabowski, G.A. (2005) Recent clinical progress in Gaucher disease. Current Opinion in Pediatrics, 17, 519524.
  • Grabowski, G.A., Barton, N.W., Pastores, G., Dambrosia, J.M., Banerjee, T.K., McKee, M.A., Parker, C., Schiffmann, R., Hill, S.C. & Brady, R.O. (1995) Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Annals of Internal Medicine, 122, 3339.
  • Grabowski, G.A., Leslie, N. & Wenstrup, R. (1998) Enzyme therapy for Gaucher disease: the first 5 years. Blood Reviews, 12, 115133.
  • Grabowski, G., Kolodny, E.H., Weinreb, N., Rosenbloom, B.E., Prakash-Cheng, A., Kaplan, P., Charrow, J., Pastores, G.M. & Mistry, P.K. (2006) Gaucher disease: phenotypic and genetic variation. In: The Online Metabolic and Molecular Basis of Inherited Metabolic Disease (ed. by C.R.Scriver, A.L.Beaudet, D.Valle, W.S.Vogelstein, K.W.Kinzler & B.Childs), McGraw-Hill Companies, New York, NY. Available at: http://genetics.accessmedicine.com/mmbid/public/co_contents/toc_part16.html (accessed 11 June 2009).
  • Hollak, C.E., Levi, M., Berends, F., Aerts, J.M. & Van Oers, M.H. (1997) Coagulation abnormalities in type 1 Gaucher disease are due to low-grade activation and can be partly restored by enzyme supplementation therapy. British Journal of Haematology, 96, 470476.
  • Kacher, Y. & Futerman, A.H. (2009) Impaired IL-10 transcription and release in animal models of Gaucher disease macrophages. Blood Cells and Molecules & Diseases, 43, 134137.
  • Kaplan, P., Andersson, H.C., Kacena, K.A. & Yee, J.D. (2006) The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Archives of Pediatric and Adolescent Medicine, 160, 603608.
  • Lee, R.E. (1982) The pathology of Gaucher disease. In: Gaucher Disease: A Century of Delineation and Research (ed. by R.J.Desnick & G.A.Grabowski), pp. 177217. Liss, New York, NY.
  • Maaswinkel-Mooij, P., Hollak, C., Van Eysden-Plaisier, M., Prins, M., Aerts, H. & Poll, R. (2000) The natural course of Gaucher disease in The Netherlands: implications for monitoring of disease manifestations. Journal of Inherited Metabolic Disease, 23, 7782.
  • Meikle, P.J., Hopwood, J.J., Clague, A.E. & Carey, W.F. (1999) Prevalence of lysosomal storage disorders. Journal of the American Medical Association, 281, 249254.
  • Mori, A., Hashino, S., Kobayashi, S., Tanaka, J., Yamamoto, Y., Asaka, M. & Imamura, M. (2001) Avascular necrosis in the femoral head secondary to bone marrow infarction in a patient with graft-versus-host disease after unrelated bone marrow transplantation. Annals of Hematology, 80, 238242.
  • Rosenthal, D.I., Doppelt, S.H., Mankin, H.J., Dambrosia, J.M., Xavier, R.J., McKusick, K.A., Rosen, B.R., Baker, J., Niklason, L.T. & Hill, S.C. (1995) Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics, 96, 629637.
  • Rothman, K. (2002) Epidemiology: An Introduction. Oxford University Press, Oxford; New York.
  • Sims, K.B., Pastores, G.M., Weinreb, N.J., Barranger, J., Rosenbloom, B.E., Packman, S., Kaplan, P., Mankin, H., Xavier, R., Angell, J., Fitzpatrick, M.A. & Rosenthal, D. (2008) 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. Clinical Genetics, 73, 430440.
  • Taddei, T.H., Kacena, K.A., Yang, M., Yang, R., Malhotra, A., Boxer, M., Aleck, K.A., Rennert, G., Pastores, G.M. & Mistry, P.K. (2009) The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. American Journal of Hematology, 84, 208214.
  • Weinreb, N.J., Charrow, J., Andersson, H.C., Kaplan, P., Kolodny, E.H., Mistry, P., Pastores, G., Rosenbloom, B.E., Scott, C.R., Wappner, R.S. & Zimran, A. (2002) 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. American Journal of Medicine, 113, 112119.
  • Weinreb, N., Barranger, J., Packman, S., Prakash-Cheng, A., Rosenbloom, B., Sims, K., Angell, J., Skrinar, A. & Pastores, G. (2007) Imiglucerase (Cerezyme®) improves quality of life in patients with skeletal manifestations of Gaucher disease. Clinical Genetics, 71, 576588.
  • Weinreb, N.J., Andersson, H.C., Banikazemi, M., Barranger, J., Beutler, E., Charrow, J., Grabowski, G.A., Hollak, C.E., Kaplan, P., Mankin, H., Mistry, P.K., Rosenbloom, B.E., Vom Dahl, S. & Zimran, A. (2008) Prevalence of type 1 Gaucher disease in the United States. Archives of Internal Medicine, 168, 326327; author reply 327–328.
  • Wenstrup, R.J., Kacena, K.A., Kaplan, P., Pastores, G.M., Prakash-Cheng, A., Zimran, A. & Hangartner, T.N. (2007) Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. Journal of Bone Mineral Research, 22, 119126.
  • Wolfe, C.J. & Taylor-Butler, K.L. (2000) Avascular necrosis. A case history and literature review. Archives of Family Medicine, 9, 291294.