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The Marfan Syndrome: Diagnosis and Management
Abstract
THE Marfan syndrome is classified as a heritable disorder of connective tissue because clinical and pathological alterations involve supporting elements. It long has been assumed that an inborn error of protein metabolism, particularly in collagen or elastin, accounts for the Marfan syndrome, but conclusive evidence is not yet available. Moreover, the extent of biochemical variability in structural proteins associated with health and disease is for the most part unknown, one result being that the prevalence and clinical importance of all the heritable disorders of connective tissue are inadequately appreciated. On the basis of recent experience, the prevalence of what we . . .
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Cited by
International nosology of heritable disorders of connective tissue, Berlin, 1986
Beighton, P., de Paepe, A., Danks, D., Finidori, G., Gedde‐Dahl, T., Goodman, R., Hall, J. G., Hollister, D. W., Horton, W., McKusick, V. A., et al. (1988) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320290316 · Cited by 732
Self-citationMarfan Syndrome: Long-term Survival and Complications After Aortic Aneurysm Repair
Finkbohner, R., Johnston, D., Crawford, E. S., Coselli, J., & Milewicz, D. M. (1995) · Circulation · doi:10.1161/01.cir.91.3.728 · Cited by 309
Extracellular matrix dynamics in vascular remodeling
Ma, Z., Mao, C., Jia, Y., Fu, Y., & Kong, W. (2020) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00147.2020 · Cited by 129
Schizophrenia and Marfan Syndrome
Sirota, P., Frydman, M., & Sirota, L. (1990) · British Journal of Psychiatry · doi:10.1192/bjp.157.3.433 · Cited by 29
Metadata
- Authors
- Pyeritz, R. E., & McKusick, V. A.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1979-04-05
- Volume
- 300
- Issue
- 14
- Pages
- 772-777
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2336583262
- Cited by
- 906
- References
- 0
- FWCI
- 8.64
- Type
- journal article
- Language
- en
- Open access
- closed
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- Pyeritz, R. E., & McKusick, V. A. (1979). The Marfan Syndrome: Diagnosis and Management. New England Journal of Medicine. https://doi.org/10.1056/nejm197904053001406
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
