The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Recessively inherited coagulation disorders
Open accessAbstract
Deficiencies of coagulation factors other than factor VIII and factor IX that cause bleeding disorders are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500 000 and 1 in 2 million for the homozygous forms. As a consequence of the rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecular defects, and the actual management of bleeding episodes are not as well established as for hemophilia A and B. We investigated more than 1000 patients with recessively inherited coagulation disorders from Italy and Iran, a country with a high rate of recessive diseases due to the custom of consanguineous marriages. Based upon this experience, this article reviews the genetic basis, prevalent clinical manifestations, and management of these disorders. The steps and actions necessary to improve the condition of these often neglected patients are outlined.
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Cites
The hemophilias--from royal genes to gene therapy
Mannucci, P. M., & Tuddenham, E. G. D. (2001) · New England Journal of Medicine · doi:10.1056/nejm200106073442307 · Cited by 1,110
Self-citationBleeding due to disruption of a cargo-specific ER-to-Golgi transport complex
Zhang, B., Cunningham, M. A., Nichols, W. C., Bernat, J. A., Seligsohn, U., Pipe, S. W., McVey, J. H., Schulte-Overberg, U., de Bosch, N. B., Ruiz-Saez, A., et al. (2003) · Nature Genetics · doi:10.1038/ng1153 · Cited by 309
Cited by
Frontera, J. A., Lewin III, J. J., Rabinstein, A. A., Aisiku, I. P., Alexandrov, A. W., Cook, A. M., del Zoppo, G. J., Kumar, M. A., Peerschke, E. I. B., Stiefel, M. F., et al. (2016) · Neurocritical Care · doi:10.1007/s12028-015-0222-x · Cited by 706
Congenital Fibrinogen Disorders: An Update
Casini, A., Neerman-Arbez, M., & de Moerloose, P. (2013) · Seminars in Thrombosis and Hemostasis · doi:10.1055/s-0033-1349222 · Cited by 302
LEE, C. A., CHI, C., PAVORD, S. R., BOLTON‐MAGGS, P. H. B., POLLARD, D., HINCHCLIFFE‐WOOD, A., & KADIR, R. A. (2006) · Haemophilia · doi:10.1111/j.1365-2516.2006.01314.x · Cited by 280
Orellana, D., & Kershaw, G. (2013) · Seminars in Thrombosis and Hemostasis · doi:10.1055/s-0033-1336832 · Cited by 76
Metadata
- Authors
- Mannucci, P. M., Duga, S., & Peyvandi, F.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2004-09-01
- Volume
- 104
- Issue
- 5
- Pages
- 1243-1252
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2020547352
- Cited by
- 519
- References
- 2
- FWCI
- 10.76
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Mannucci, P. M., Duga, S., & Peyvandi, F. (2004). Recessively inherited coagulation disorders. Blood. https://doi.org/10.1182/blood-2004-02-0595
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