The DOI matches its Crossref record; 93 of the 93 references it cites were found in a registry or an index.
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference
Open accessAbstract
Summary: Diamond Blackfan anaemia (DBA) is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. Classical DBA affects about seven per million live births and presents during the first year of life. However, as mutated genes have been discovered in DBA, non‐classical cases with less distinct phenotypes are being described in adults as well as children. In caring for these patients it is often difficult to have a clear understanding of the treatment options and their outcomes because of the lack of complete information on the natural history of the disease. The purpose of this document is to review the criteria for diagnosis, evaluate the available treatment options, including corticosteroid and transfusion therapies and stem cell transplantation, and propose a plan for optimizing patient care. Congenital anomalies, mode of inheritance, cancer predisposition, and pregnancy in DBA are also reviewed. Evidence‐based conclusions will be made when possible; however, as in many rare diseases, the data are often anecdotal and the recommendations are based upon the best judgment of experienced clinicians. The recommendations regarding the diagnosis and management described in this report are the result of deliberations and discussions at an international consensus conference.
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Cites
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Cited by
Hattangadi, S. M., Wong, P., Zhang, L., Flygare, J., & Lodish, H. F. (2011) · Blood · doi:10.1182/blood-2011-07-356006 · Cited by 423
Guidelines on transfusion for fetuses, neonates and older children
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Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
Sankaran, V. G., Ghazvinian, R., Do, R., Thiru, P., Vergilio, J.-A., Beggs, A. H., Sieff, C. A., Orkin, S. H., Nathan, D. G., Lander, E. S., et al. (2012) · Journal of Clinical Investigation · doi:10.1172/jci63597 · Cited by 342
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Self-citationThe Genetic Landscape of Diamond-Blackfan Anemia
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Metadata
- Authors
- Vlachos, A., Ball, S., Dahl, N., Alter, B. P., Sheth, S., Ramenghi, U., Meerpohl, J., Karlsson, S., Liu, J. M., Leblanc, T., Paley, C., Kang, E. M., Leder, E. J., Atsidaftos, E., Shimamura, A., Bessler, M., Glader, B., Lipton, J. M., & Conference, O. B. O. T. P. O. T. S. A. D. M. A. I. C.
- Venue
- British Journal of Haematology
- Publisher
- Wiley
- Published
- 2008-08-21
- Volume
- 142
- Issue
- 6
- Pages
- 859-876
- ISSN
- 0007-1048 (ISSN-L)
- 1365-2141
- OpenAlex
- W2149046852
- Cited by
- 478
- References
- 93
- FWCI
- 14.24
- Type
- journal article
- Language
- en
- Open access
- green
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- Vlachos, A., Ball, S., Dahl, N., Alter, B. P., Sheth, S., Ramenghi, U., Meerpohl, J., Karlsson, S., Liu, J. M., Leblanc, T., Paley, C., Kang, E. M., Leder, E. J., Atsidaftos, E., Shimamura, A., Bessler, M., Glader, B., Lipton, J. M., & Conference, O. B. O. T. P. O. T. S. A. D. M. A. I. C. (2008). Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. British Journal of Haematology. https://doi.org/10.1111/j.1365-2141.2008.07269.x
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
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.
