The DOI matches its Crossref record; 40 of the 40 references it cites were found in a registry or an index.
Congenital Adrenal Hyperplasia
Abstract
Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the enzymes required for cortisol synthesis in the adrenal cortex. The most frequent is steroid 21-hydroxylase deficiency, accounting for more than 90 percent of cases. This article discusses the molecular mechanisms, diagnosis, and management of this disease and highlights new developments, including genotype–phenotype correlations, gene-specific prenatal diagnosis, and prenatal therapy.
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Citations
Cites
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency*
White, P. C., & Speiser, P. W. (2000) · Endocrine Reviews · doi:10.1210/edrv.21.3.0398 · Cited by 1,432
Self-citationGenotyping steroid 21-hydroxylase deficiency: hormonal reference data
NEW, M. I., LORENZEN, F., LERNER, A. J., KOHN, B., OBERFIELD, S. E., POLLACK, M. S., DUPONT, B., STONER, E., LEVY, D. J., PANG, S., et al. (1983) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-57-2-320 · Cited by 624
Speiser, P. W., Dupont, J., Zhu, D., Serrat, J., Buegeleisen, M., Tusie-Luna, M. T., Lesser, M., New, M. I., & White, P. C. (1992) · Journal of Clinical Investigation · doi:10.1172/jci115897 · Cited by 572
Self-citationStructure of human steroid 21-hydroxylase genes.
White, P. C., New, M. I., & Dupont, B. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.14.5111 · Cited by 569
Self-citation17-Hydroxylation deficiency in man
Biglieri, E. G., Herron, M. A., & Brust, N. (1966) · Journal of Clinical Investigation · doi:10.1172/jci105499 · Cited by 561
Higashi, Y., Yoshioka, H., Yamane, M., Gotoh, O., & Fujii-Kuriyama, Y. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.9.2841 · Cited by 555
Carroll, M. C., Campbell, R. D., & Porter, R. R. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.2.521 · Cited by 370
Wedell, A. (1994) · Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.78.5.1145 · Cited by 370
Chung, B. C., Matteson, K. J., Voutilainen, R., Mohandas, T. K., & Miller, W. L. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.23.8962 · Cited by 354
Therrell, B. L., Berenbaum, S. A., Manter-Kapanke, V., Simmank, J., Korman, K., Prentice, L., Gonzalez, J., & Gunn, S. (1998) · Pediatrics · doi:10.1542/peds.101.4.583 · Cited by 344
Research works printed but not linked: 16
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- Miller, 1987, J Pediatr, 111, 1, 10.1016/S0022-3476(87)80334-7 · DOI · Paper page
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Cited by
Flynn, J. T., Kaelber, D. C., Baker-Smith, C. M., Blowey, D., Carroll, A. E., Daniels, S. R., de Ferranti, S. D., Dionne, J. M., Falkner, B., Flinn, S. K., et al. (2017) · Pediatrics · doi:10.1542/peds.2017-1904 · Cited by 3,651
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
Miller, W. L., & Auchus, R. J. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0013 · Cited by 2,458
Consensus Statement on Management of Intersex Disorders
Lee, P. A., Houk, C. P., Ahmed, S. F., Hughes, I. A., & in collaboration with the participants in the International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology (2006) · Pediatrics · doi:10.1542/peds.2006-0738 · Cited by 2,324
Azziz, R., Carmina, E., Dewailly, D., Diamanti-Kandarakis, E., Escobar-Morreale, H. F., Futterweit, W., Janssen, O. E., Legro, R. S., Norman, R. J., Taylor, A. E., et al. (2009) · Fertility and Sterility · doi:10.1016/j.fertnstert.2008.06.035 · Cited by 2,132
Speiser, P. W., Azziz, R., Baskin, L. S., Ghizzoni, L., Hensle, T. W., Merke, D. P., Meyer-Bahlburg, H. F. L., Miller, W. L., Montori, V. M., Oberfield, S. E., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2631 · Cited by 1,468
Self-citation
Metadata
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1987-11-26
- Volume
- 317
- Issue
- 22
- Pages
- 1413-1415
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W3095533299
- Cited by
- 1,409
- References
- 40
- FWCI
- 7.40
- Type
- journal article
- Language
- en
- Open access
- closed
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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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