21-hydroxylase deficiency: From molecular genetics to clinical presentation

Author:

Trakakis E.,Laggas D.,Salamalekis E.,Creatsas G.

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Reference47 articles.

1. New MI, Dupont B, Grumbach K, et al. Congenital adrenal hyperplasia and related condition. In: Stanbury IB, Wyngaarden JB, Fredrieksen DS, Goldstein JL eds. The metabolic basis of inherited disease, 5th ed. New York: McGraw-Hill. 1983, 973–1000.

2. White P, New MI, Dupont B. Congenital adrenal hyperplasia. N Engl J Med 1987, 25: 150–6.

3. Speiser PW, Dupont B, Rubenstein P, et al. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985, 37: 650–7.

4. Azziz R, Dewailly P, Owerbach P. Nonclassic adrenal hyperplasia: current concepts (clinical review 56). J Clin Endocrinol Metab 1994, 78: 810–5.

5. White DC, New MI. Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 1992, 74: 6–11.

Cited by 17 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Steroidogenesis of Corticosteroids, Genetic Mutation, and Endocrine Disruption Leading to Adrenal Insufficiency;Cortisol - Between Physiology and Pathology [Working Title];2023-11-13

2. Genetic architecture of acne vulgaris;Journal of the European Academy of Dermatology and Venereology;2017-09-24

3. Congenital Adrenal Hyperplasia and Acne in the Male Patients;Pathogenesis and Treatment of Acne and Rosacea;2014

4. Genotype, phenotype and hormonal levels correlation in non-classical congenital adrenal hyperplasia;J ENDOCRINOL INVEST;2011

5. Endokrinologische Labordiagnostik;Labormedizin;2011

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3