The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report
Open accessAbstract
Newborn screening (NBS) for cystic fibrosis (CF) is increasingly being implemented and is soon likely to be in use throughout the United States, because early detection permits access to specialized medical care and improves outcomes. The diagnosis of CF is not always straightforward, however. The sweat chloride test remains the gold standard for CF diagnosis but does not always give a clear answer. Genotype analysis also does not always provide clarity; more than 1500 mutations have been identified in the CF transmembrane conductance regulator (CFTR) gene, not all of which result in CF. Harmful mutations in the gene can present as a spectrum of pathology ranging from sinusitis in adulthood to severe lung, pancreatic, or liver disease in infancy. Thus, CF identified postnatally must remain a clinical diagnosis. To provide guidance for the diagnosis of both infants with positive NBS results and older patients presenting with an indistinct clinical picture, the Cystic Fibrosis Foundation convened a meeting of experts in the field of CF diagnosis. Their recommendations, presented herein, involve a combination of clinical presentation, laboratory testing, and genetics to confirm a diagnosis of CF.
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Cites
Gibson, L. E., & Cooke, R. E. (1959) · Pediatrics · doi:10.1542/peds.23.3.545 · Cited by 1,434
Prediction of mortality in patients with cystic fibrosis
Kerem, E., Reisman, J., Corey, M., Canny, G. J., & Levison, H. (1992) · New England Journal of Medicine · doi:10.1056/nejm199204303261804 · Cited by 993
Highsmith, W. E., Burch, L. H., Zhou, Z., Olsen, J. C., Boat, T. E., Spock, A., Gorvoy, J. D., Quittell, L., Friedman, K. J., Silverman, L. M., et al. (1994) · New England Journal of Medicine · doi:10.1056/nejm199410133311503 · Cited by 441
Cited by
Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele
Middleton, P. G., Mall, M. A., Dřevínek, P., Lands, L. C., McKone, E. F., Polineni, D., Ramsey, B. W., Taylor-Cousar, J. L., Tullis, E., Vermeulen, F., et al. (2019) · New England Journal of Medicine · doi:10.1056/nejmoa1908639 · Cited by 2,198
A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation
Ramsey, B. W., Davies, J., McElvaney, N. G., Tullis, E., Bell, S. C., Dřevínek, P., Griese, M., McKone, E. F., Wainwright, C. E., Konstan, M. W., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1105185 · Cited by 2,195
O'Sullivan, B. P., & Freedman, S. D. (2009) · The Lancet · doi:10.1016/s0140-6736(09)60327-5 · Cited by 1,320
Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809
Van Goor, F., Hadida, S., Grootenhuis, P. D. J., Burton, B., Stack, J. H., Straley, K. S., Decker, C. J., Miller, M., McCartney, J., Olson, E. R., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1105787108 · Cited by 1,088
Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation
Farrell, P. M., White, T. B., Ren, C. L., Hempstead, S. E., Accurso, F., Derichs, N., Howenstine, M., McColley, S. A., Rock, M., Rosenfeld, M., et al. (2017) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2016.09.064 · Cited by 953
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Metadata
- Authors
- Farrell, P. M., Rosenstein, B. J., White, T. B., Accurso, F. J., Castellani, C., Cutting, G. R., Durie, P. R., LeGrys, V. A., Massie, J., Parad, R. B., Rock, M. J., & Campbell, P. W.
- Venue
- The Journal of Pediatrics
- Publisher
- Elsevier BV
- Published
- 2008-08
- Volume
- 153
- Issue
- 2
- Pages
- S4-S14
- ISSN
- 0022-3476 (ISSN-L)
- OpenAlex
- W2062137132
- Cited by
- 1,094
- References
- 3
- FWCI
- 55.93
- Type
- journal article
- Language
- en
- Open access
- green
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- Farrell, P. M., Rosenstein, B. J., White, T. B., Accurso, F. J., Castellani, C., Cutting, G. R., Durie, P. R., LeGrys, V. A., Massie, J., Parad, R. B., Rock, M. J., & Campbell, P. W. (2008). Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report. The Journal of Pediatrics. https://doi.org/10.1016/j.jpeds.2008.05.005
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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.
