1.Aerts, J. M. F. G., Donker-Koopman, W. E., Murray, G. J., et al. A procedure for the rapid purification in high yields of human glucocerebrosidase using immunoaffinity chromatography with monoclonal antibodies. Analytic Biochemistry, 1986, 154, 655–63.
2.Barranger, J. A., & Ginns, E. I. Glucosylceramide lipidosis: Gaucher disease. In Scriver, C. R., Beaudet, A. L., Sly, W. S., & Valle, D. (eds.), The metabolic basis of inherited disease, 6th ed.New York: McGraw-Hill, 1989, 1677–98.
3.Barton, N. W., Brady, R. O., Dambrosia, J. M., et al. Replacement therapy for inherited enzyme deficiency—Macrophage targeted glucocerebrosidase for Gaucher’s disease. New England Journal of Medicine, 1991, 324, 1464–70.
4.Barton, N. W., Furbish, F. S., Murray, G. J., et al. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proceedings of the National Academy of Sciences U.S.A., 1990, 87, 1913–16.
5.Belchelz, P. E., Crawley, J. C. W., Braidman, I. P., & Gregoriadis, G.Treatment of Gaucher’s disease with liposome-entrapped glucocerebrosidase: β-glucosidase. Lancet, 1977, ii, 116–17.
6.Beutler, E.Gaucher disease. Blood Reviews, 1988, 2, 59–70.
7.Beutler, E. Monocyte and macrophage disorders: Lipid storage disorders. In Williams, W. J., Beutler, E., Erslev, A. J., & Lichtman, M. A. (eds.), Hematology, 4th ed. New York: McGraw-Hill, 1990, 886–94.
8.Beutler, E.Gaucher’s disease. New England Journal of Medicine, 1991, 325, 1354–60.
9.Beutler, E., Dale, G. L., Guinto, E., & Kuhl, W.Enzyme replacement therapy in Gaucher’s disease: Preliminary clinical trial of a new enzyme preparation. Proceedings of the National Academy of Sciences U.S.A., 1977, 74, 4620–23.
10.Beutler, E., Dale, G. L., & Kuhl, W. Replacement therapy in Gaucher disease. In Desnick, R. J. (ed.), Enzyme replacement therapy in genetic diseases: 2. New York: Alan R. Liss, Inc., 1980, 369–81.
11.Beutler, E., Kay, A., Saven, A., et al. Enzyme replacement therapy for Gaucher disease. Blood, 1991, 78, 1183–89.
12.Brady, R. O., & Barranger, J. A. Glucosylceramide lipidosis: Gaucher's disease. In Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., Goldstein, J. L., & Brown, M. S. (eds.), The metabolic basis of inherited disease, 5th ed.New York: McGraw-Hill, 1983, 842–56.
13.Brady, R. O., Barranger, J.A., Furbish, F. S., et al. Prospects for enzyme replacement therapy in Gaucher disease. In Desnick, R. J., Gatt, S., & Grabowski, G. A. (eds.), Gaucher disease: A century of delineation and research. New York: Alan R. Liss, Inc., 1982, 669–80.
14.Brady, R. O., Barranger, J. A., Gal, A. E., et al. Status of enzyme replacement therapy for Gaucher disease. In Desnick, R. J. (ed.), Enzyme therapy in genetic diseases: 2. New York: Alan R. Liss, Inc., 1980, 361–68.
15.Brady, R. O., Pentchev, P. G., Gal, A. E., et al. Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease. New England Journal of Medicine, 1974, 291, 989–93.
16.Choy, F. Y. M.Purification of human placental glucocerebrosidase using a two-step high performance hydrophobic and gel permeation column chromatography method. Analytic Biochemistry, 1986, 156, 515–20.
17.Comanor, W. S.The political economy of the pharmaceutical industry. Journal of Economic Literature, 1986, 24, 1178–17.
18.Dale, G. L., & Beutler, E.Enzyme replacement therapy in Gaucher's disease: A rapid high yield method for purification of glucocerebrosidase. Proceedings of the National Academy of Sciences U.S.A., 1976, 73, 4672–74.
19.Dale, G. L., Beutler, E., Fournier, P., et al. Large scale purification of glucocerebrosidase from human placentas. In Desnick, R J. (ed.), Enzyme therapy in genetic diseases. 2. New York: Alan R. Liss, Inc., 1980, 33–41.
20.Doebber, T. W., Wu, M. S., Bugianesi, R. L., et al. Enhanced macrophage uptake of synthetically glycosylated human placental glucocerebrosidase. Journal of Biological Chemistry 1982, 257, 2193–99.
21.Erikson, E., Groth, G. C, Mansson, J. E., et al. Clinical and biochemical outcome of marrow transplantation for Gaucher disease of the Norrbottnian type. Ada Paediatrica Scandanavica, 1990, 79, 680–85.
22.Eyal, N., Wilder, S., & Horowitz, M.Prevalent and rare mutations among Gaucher patients. Gene, 1990, 96, 277–83.
23.Furbish, F. S., Blair, H. E., Shiloach, J., et al. Enzyme replacement therapy in Gaucher's disease: Large-scale purification of glucocerebrosidase suitable for human administration. Proceedings of the National Academy of Sciences U.S.A., 1977, 74, 3560–63.
24.Furbish, F. S., Steer, C. J., Krett, N. L., & Barranger, J. A.Uptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylation. Biochimica et Biophysica Ada, 1981, 673, 425–34.
25.Grabowski, G. A., & Dagan, A.Human lysosomal β-glucosidase: Purification by affinity chromatography. Analytic Biochemistry, 1984, 141, 267–79.
26.Gregoriadis, G., Neerunjun, D., Meade, T. W., et al. Experiences after long-term treatment of a Type 1 Gaucher disease patient with liposome-entrapped glucocerebroside: β-glucosidase. In Desnick, R. J. (ed.), Enzyme therapy in genetic diseases. 2. New York: Alan R. Liss, Inc., 1980, 383–92.
27.Groth, C. G., Collste, H., Dreborg, S., et al. Attempt at enzyme replacement by organ transplantation; renal transplantation in Gaucher disease. Transplantation Proceedings, 1979, 11, 1218–19.
28.Groth, C. G., Dreborg, S., Oeckerman, P. A., et al. Splenic transplantation in a case of Gaucher's disease. Lancet, 1971, 1260–64.
29.Hobbs, J. R., Shaw, P. J., Hugh-Jones, K., et al. Beneficial effect of pretransplant splencetomy on displacement bone marrow transplantation for Gaucher's syndrome. Lancet, 1987, ii, 1111-15.
30.Kirkpatrick, D. V., Barrios, N. J., Shapira, E., & Humbert, J. R.Treatment of enzyme storage disease with matched and partially matched bone marrow transplantation: The Tulane marrow transplant group experience. Blood, 1990, 76(suppl. 1), AZ184.
31.Kleinschmidt, T., Christomanou, H., & Braunitzer, G.Complete amino-acid sequence and carbohydrate content of the naturally occurring glucosylceramide activator protein (Al activator) absent from a new human Gaucher disease variant. Biological Chemistry HoppeSeyler, 1987, 368, 1571–78.
32.Krivit, W. Lysosomal storage diseases. In Hoffman, R., Benz, E. J., Shattil, S. J., Furie, B., & Cohen, H. J. (eds.), Hematology. Basic principles and practice. New York: Churchill Livingstone, 1991, 617–20.
33.Krivit, W. Bone marrow transplantation as treatment for storage diseases: Background review and specific application to Gaucher's disease. Japanese Journal of Inborn Errors of Metabolism, in press.
34.Latham, T. E., Theophilus, B. D. M., Grabowski, G. A., & Smith, F. I.Heterogeneity of mutations in the acid-glucosidase gene of Gaucher disease patients. DNA and Cell Biology, 1991, 10, 15–21.
35.Ludman, M. D., Lipton, J., Sadhev, I., et al. Gaucher disease: Bone marrow transplantation in rapidly progressive disease. American Journal of Human Genetics, 1988, (suppl.), A237.
36.Matoth, Y., Chazan, S., Cnaan, A., et al. Frequency of carriers of chronic (type 1) Gaucher disease in Ashkenazi Jews. American Journal of Medical Genetics, 1987, 27, 561–65.
37.Maugh, T. H., II. Study finds a second genetic link to illness. Los Angeles Times, 12 1991.
38.Murray, G. J., Howard, K. D., Richards, S. M., et al. Gaucher's disease: Lack of antibody response in 12 patients following repeated intravenous infusions of mannose terminal glucocerebrosidase. Journal of Immunological Methods, 1991, 137, 113–20.
39.Murray, G. J., Youle, R. J., Gandy, S. E., et al. Purification of ß-glucocerebrosidase by preparative-scale high-performance liquid chromatography: The use of ethylene glycol containing buffers for chromatography of hydrophobic glycoprotein enzymes. Analytic Biochemistry, 1985, 147, 301–10.
40.Pentchev, P. G., Brady, R. O., Hibbert, S. R., et al. Isolation and characterization of glucocerebrosidase from human placental tissue. Journal of Biological Chemistry, 1973, 248, 5256–61.
41. Personal communication with Norman Barton, MD, PhD, Developmental and Metabolic Branch, National Institute of Neurological Disorders and Stroke, U.S. National Institutes of Health.
42. Personal communication with Ernest Beutler, MD, Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA.
43. Personal communication with Gregory Grabowski, MD, Department of Genetics and Molecular Biology, Mt. Sinai Medical Center, NY.
44. Personal communication with Glenn Molyneaux, MD, Assistant Medical Director, Blue Shield of California.
45. Personal communication with John Short, MD, Executive Secretary, U.S. Food and Drug Administration Endocrinologic and Metabolic Drugs Advisory Committee.
46. Personal communication with Alison Taunton-Rigby, PhD, Vice President Therapeutics, Genzyme Corporation.
47. Personal communication with Peter Vaccari, Office of Orphan Product Development, U.S. Food and Drug Administration.
48.Rappeport, J. M., Barranger, J. A., & Ginns, E. I.Bone marrow transplantation in Gaucher disease. Birth Defects, 1986, 22, 101–09.
49. Report by Barton, Norman MD, PhD in Proceedings from the Endocrinologic and Metabolic Advisory Committee, 10 22, 1990, 135–248.
50.Ringden, O., Groth, C. G., Aschan, J., et al. Bone marrow transplantation for metabolic disorders at Huddinge hospital. Transplantation Proceedings, 1990, 22, 198–202.
51.Russell, L. B.Some of the tough decisions required by a national health plan. Science, 1989, 240, 892–96.
52.Securities and Exchange Commission. 10-K filings on behalf of Genzyme Corporation, 1987–1990.
53.Stahl, P. D., Rodman, J. S., Miller, M. J., & Schlesinger, P. H.Evidence for receptor-mediated binding of glycoproteins, glycoconjugates, and lysosomal glycosidases by alveolar macrophages. Proceedings of the National Academy of Sciences U.S.A. 1978, 75, 1399–403.
54.Starer, F., Sargent, J. D., & Hobbs, J. R.Regression of the radiological changes of Gaucher's disease following bone marrow transplantation. British Journal of Radiology, 1987, 60, 1189–95.
55.Strasberg, P. M., Lowden, J. A., & Mahuran, D.Purification of glucosylceramidase by affinity chromatography. Canadian Journal of Biochemistry, 1982, 60, 1025–31.
56.Tsuji, S., Choudary, P. V., Martin, B. M., et al. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. New England Journal of Medicine, 1987, 316, 570–75.
57.Tsuji, S., Martin, B. M., Barranger, J. A., et al. Genetic heterogeneity in type 1 Gaucher disease: Multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Proceedings of the National Academy of Sciences, U.S.A., 1988, 85, 2349–52.
58. United States Congressional Office of Technology Assessment Report on the Pharmaceutical Industry. In press.
59.Zimran, A., Gelbert, T., Westwood, B., et al. High frequency of the common Jewish mutation for Type 1 Gaucher disease among the Ashkenazi Jewish population. Blood, 1990, 76 (suppl.), A199.
60.Zimran, A., Gelbart, T., Westwood, B., et al. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. American Journal of Human Genetics, 1991, 49, 855-59.
61.Zimran, A., Gross, E., West, C., et al. Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet, 1989, ii, 349–52.