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Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease.
Open accessAbstract
Enzyme replacement has been under consideration as a therapeutic strategy for patients with Gaucher disease for more than two decades. Previous studies indicated that single injections of purified glucocerebrosidase reduced the amount of storage material in the liver. It was important to determine whether administration of exogenous enzyme on a regular basis would be of clinical benefit. We report here that weekly i.v. infusions of a macrophage-targeted preparation of human placental glucocerebrosidase in a child with type 1 Gaucher disease increased hemoglobin from 6.9 +/- 0.8 g/dl (+/- 1 SD) to 10.2 +/- 0.4 g/dl (+/- 1 SD) over a 20-week period. The platelet count also increased from a pretreatment value of 30,000 +/- 7000/mm3 (+/- 1 SD) to 54,000 +/- 11,000/mm3 (+/- 1 SD). Phagocytic activity in the spleen decreased during the period of enzyme administration, and there was radiographic evidence of skeletal improvement. These observations document objective clinical responses to enzyme supplementation in a patient with a sphingolipid storage disorder.
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Cited by
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., et al. (1991) · New England Journal of Medicine · doi:10.1056/nejm199105233242104 · Cited by 1,252
Self-citationLysosomal 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
Sphingolipid metabolism diseases
Kolter, T., & Sandhoff, K. (2006) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/j.bbamem.2006.05.027 · Cited by 367
The rapidly evolving view of lysosomal storage diseases
Parenti, G., Medina, D. L., & Ballabio, A. (2021) · EMBO Molecular Medicine · doi:10.15252/emmm.202012836 · Cited by 230
Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders
Coutinho, M., Santos, J., & Alves, S. (2016) · International Journal of Molecular Sciences · doi:10.3390/ijms17071065 · Cited by 116
Metadata
- Authors
- Barton, N. W., Furbish, F. S., Murray, G. J., Garfield, M., & Brady, R. O.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1990-03
- Volume
- 87
- Issue
- 5
- Pages
- 1913-1916
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2078379563
- Cited by
- 366
- References
- 0
- FWCI
- 12.27
- Type
- journal article
- Language
- en
- Open access
- green
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- Barton, N. W., Furbish, F. S., Murray, G. J., Garfield, M., & Brady, R. O. (1990). Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.87.5.1913
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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