Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency
Author:
Publisher
Frontiers Media SA
Subject
Pediatrics, Perinatology and Child Health
Reference28 articles.
1. Mechanisms in endocrinology: rare defects in adrenal steroidogenesis;Miller;Eur J Endocrinol.,2018
2. Congenital adrenal hyperplasia;Speiser;N Engl J Med.,2003
3. Steroid 11 beta-hydroxylase deficiency and related disorders;White;Endocrinol Metab Clin North Am.,2001
4. Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency;Tonetto-Fernandes;J Clin Endocrinol Metab.,2006
5. Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-beta hydroxylase deficiency;Kandemir;J Steroid Biochem Mol Biol.,2017
Cited by 9 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. Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature;Endocrine;2024-02-27
2. Identification and functional characterization of compound heterozygous CYP11B1 gene mutations;Endocrine;2024-01-29
3. Beyond Binary: Gender Reassignment in a Case of 11β-Hydroxylase Deficiency;Cureus;2023-11-11
4. Deciphering genetic causes for sex differences in human health through drug metabolism and transporter genes;Nature Communications;2023-01-12
5. Hypergonadism;Steroids in the Laboratory and Clinical Practice;2023
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