A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene
Author:
Publisher
Korean Society of Pediatric Endocrinology
Subject
Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Link
http://e-apem.org/upload/pdf/apem-2019-24-2-137.pdf
Reference19 articles.
1. Rickets
2. Genetic disorders of Vitamin D biosynthesis and degradation
3. Complete Structure of the Human Gene for the Vitamin D 1α-Hydroxylase, P450c1α
4. The 25-Hydroxyvitamin D 1-Alpha-Hydroxylase Gene Maps to the Pseudovitamin D-Deficiency Rickets (PDDR) Disease Locus
Cited by 7 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. Vitamin D hydroxylation–deficient rickets, type 1A;Feldman and Pike's Vitamin D;2024
2. A severe presentation of vitamin D-dependent hypocalcemic rickets associated with hypophosphatemia;Brazilian Journal of Nephrology;2023-09
3. Uma apresentação grave de raquitismo hipocalcêmico dependente de vitamina D associado à hipofosfatemia;Brazilian Journal of Nephrology;2023-09
4. Hereditary Rickets: A Quick Guide for the Pediatrician;Current Pediatric Reviews;2023-02
5. Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries;Journal of Pediatric Endocrinology and Metabolism;2022-12-19
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