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Enzymatic Defect in Fabry's Disease: Ceramidetrihexosidase Deficiency
Abstract
FABRY'S disease is a hereditary systemic disorder that was first recognized in affected males as a disease characterized by multiple small dark-purple macules and papules in the umbilical region, scrotum and other areas.1 Initially, attention was paid primarily toward these dermatologic manifestations, and the disease was designated angiokeratoma corporis diffusum universale. As the systemic nature of the disorder became apparent, the patients were found to have a lipid material deposited throughout the body. The lipid was at first regarded as a phospholipid, but it has recently been shown to be a neutral glycolipid.2 The abnormal gene responsible for this lipidosis . . .
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Cites
Colorimetric Method for Determination of Sugars and Related Substances
DuBois, M., Gilles, K. A., Hamilton, J. K., Rebers, P. A., & Smith, F. (1956) · Analytical Chemistry · doi:10.1021/ac60111a017 · Cited by 52,269
Cited by
Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
Germain, D. P., Hughes, D. A., Nicholls, K., Bichet, D. G., Giugliani, R., Wilcox, W. R., Feliciani, C., Shankar, S. P., Ezgu, F., Amartino, H., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1510198 · Cited by 555
Benjamin, E. R., Flanagan, J. J., Schilling, A., Chang, H. H., Agarwal, L., Katz, E., Wu, X., Pine, C., Wustman, B., Desnick, R. J., et al. (2009) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-009-1077-0 · Cited by 173
Chen, H.-K., Liu, Z., Meyer-Franke, A., Brodbeck, J., Miranda, R. D., McGuire, J. G., Pleiss, M. A., Ji, Z.-S., Balestra, M. E., Walker, D. W., et al. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.276162 · Cited by 163
Vedder, A. C., Cox-Brinkman, J., Hollak, C. E. M., Linthorst, G. E., Groener, J. E. M., Helmond, M. T. J., Scheij, S., & Aerts, J. M. F. G. (2006) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2006.04.013 · Cited by 53
Metadata
- Authors
- Brady, R. O., Gal, A. E., Bradley, R. M., Martensson, E., Warshaw, A. L., & Laster, L.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1967-05-25
- Volume
- 276
- Issue
- 21
- Pages
- 1163-1167
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2026507072
- Cited by
- 1,053
- References
- 1
- FWCI
- 57.35
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Enzymatic Defect in Fabry's Disease: Ceramidetrihexosidase Deficiency. https://app.cochat.ai/papers/10.1056/nejm196705252762101
- The paper
- Brady, R. O., Gal, A. E., Bradley, R. M., Martensson, E., Warshaw, A. L., & Laster, L. (1967). Enzymatic Defect in Fabry's Disease: Ceramidetrihexosidase Deficiency. New England Journal of Medicine. https://doi.org/10.1056/nejm196705252762101
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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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