The DOI matches its Crossref record; 17 of the 17 references it cites were found in a registry or an index.
Replacement Therapy for Inherited Enzyme Deficiency — Macrophage-Targeted Glucocerebrosidase for Gaucher's Disease
Open accessAbstract
BACKGROUND AND METHODS: Gaucher's disease, the most prevalent of the sphingolipid storage disorders, is caused by a deficiency of the enzyme glucocerebrosidase (glucosylceramidase). Enzyme replacement was proposed as a therapeutic strategy for this disorder in 1966. To assess the clinical effectiveness of this approach, we infused macrophage-targeted human placental glucocerebrosidase (60 IU per kilogram of body weight every 2 weeks for 9 to 12 months) into 12 patients with type 1 Gaucher's disease who had intact spleens. The frequency of infusions was increased to once a week in two patients (children) during part of the trial because they had clinically aggressive disease. RESULTS: The hemoglobin concentration increased in all 12 patients, and the platelet count in 7. Serum acid phosphatase activity decreased in 10 patients during the trial, and the plasma glucocerebroside level in 9. Splenic volume decreased in all patients after six months of treatment, and hepatic volume in five. Early signs of skeletal improvements were seen in three patients. The enzyme infusions were well tolerated, and no antibody to the exogenous enzyme developed. CONCLUSIONS: Intravenous administration of macrophage-targeted glucocerebrosidase produces objective clinical improvement in patients with type 1 Gaucher's disease. The hematologic and visceral responses to enzyme replacement develop more rapidly than the skeletal response.
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Cites
Nonparametrics: Statistical Methods Based on Ranks
Mergenthaler, M. J., & Lehmann, E. L. (1979) · Technometrics · doi:10.2307/1268531 · Cited by 3,329
Applied Regression Analysis (2nd ed).
de Carvalho, J. F., Draper, N. R., & Smith, H. (1981) · Journal of the American Statistical Association · doi:10.2307/2287608 · Cited by 3,044
Seber, G. A. F., & Wild, C. J. (1989) · Wiley Series in Probability and Statistics · doi:10.1002/0471725315 · Cited by 1,962
Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's disease
Brady, R. O., Kanfer, J. N., & Shapiro, D. (1965) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(65)90743-6 · Cited by 807
Self-citationStahl, P. D., Rodman, J. S., Miller, M. J., & Schlesinger, P. H. (1978) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.75.3.1399 · Cited by 590
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
Brady, R. O., Kanfer, J. N., Bradley, R. M., & Shapiro, D. (1966) · Journal of Clinical Investigation · doi:10.1172/jci105417 · Cited by 411
Self-citationBarton, N. W., Furbish, F. S., Murray, G. J., Garfield, M., & Brady, R. O. (1990) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.87.5.1913 · Cited by 366
Self-citationA Mutation in the Human Glucocerebrosidase Gene in Neuronopathic Gaucher's Disease
Tsuji, S., Choudary, P. V., Martin, B. M., Stubblefield, B. K., Mayor, J. A., Barranger, J. A., & Ginns, E. I. (1987) · New England Journal of Medicine · doi:10.1056/nejm198703053161002 · Cited by 345
Brady, R. O., Pentchev, P. G., Gal, A. E., Hibbert, S. R., & Dekaban, A. S. (1974) · New England Journal of Medicine · doi:10.1056/nejm197411072911901 · Cited by 294
Self-citationFurbish, F. S., Steer, C. J., Krett, N. L., & Barranger, J. A. (1981) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/0304-4165(81)90474-8 · Cited by 186
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Protein Therapeutics: A Summary and Pharmacological Classification
Leader, B., Baca, Q. J., & Golan, D. E. (2008) · Nature Reviews Drug Discovery · doi:10.1038/nrd2399 · Cited by 2,161
Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.
Hollak, C. E., van Weely, S., van Oers, M. H., & Aerts, J. M. (1994) · Journal of Clinical Investigation · doi:10.1172/jci117084 · Cited by 896
Lysosomal storage diseases: from pathophysiology to therapy
Parenti, G., Andria, G., & Ballabio, A. (2015) · Annual Review of Medicine · doi:10.1146/annurev-med-122313-085916 · Cited by 404
Occurrence of Parkinson's syndrome in type 1 Gaucher disease
Neudorfer, O., Giladi, N., Elstein, D., Abrahamov, A., Turezkite, T., Aghai, E., Reches, A., Bembi, B., & Zimran, A. (1996) · QJM · doi:10.1093/qjmed/89.9.691 · Cited by 401
Gene therapy for lysosomal storage diseases
Sands, M. S., & Davidson, B. L. (2006) · Molecular Therapy · doi:10.1016/j.ymthe.2006.01.006 · Cited by 285
Metadata
- Authors
- 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., Grewal, R. P., & Yu, K.-T.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1991-05-23
- Volume
- 324
- Issue
- 21
- Pages
- 1464-1470
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2322128806
- Cited by
- 1,252
- References
- 17
- FWCI
- 19.89
- Type
- journal article
- Language
- en
- Open access
- bronze
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- 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., Grewal, R. P., & Yu, K.-T. (1991). Replacement Therapy for Inherited Enzyme Deficiency — Macrophage-Targeted Glucocerebrosidase for Gaucher's Disease. New England Journal of Medicine. https://doi.org/10.1056/nejm199105233242104
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