Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets
Author:
Publisher
Wiley
Subject
Endocrinology, Diabetes and Metabolism,Endocrinology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2265.2010.03919.x/fullpdf
Reference40 articles.
1. Rickets resistant to vitamin D therapy;Albright;American Journal of Diseases of Children,1939
2. The rheumatic manifestations of metabolic bone disease;Davies;Clinics in Rheumatic Diseases,1981
3. Incidence and prevalence of nutritional and hereditary rickets in southern Denmark;Beck-Nielsen;European Journal of Endocrinology/European Federation of Endocrine Societies,2009
4. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium;Nature Genetics,1995
5. Pex/PEX tissue distribution and evidence for a deletion in the 3′ region of the Pex gene in X-linked hypophosphatemic mice;Beck;Journal of Clinical Investigation,1997
Cited by 53 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. Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews;2024-09-04
2. Burosumab Efficacy and Safety in Patients with X-Linked Hypophosphatemia: Systematic Review and Meta-analysis of Real-World Data;Calcified Tissue International;2024-07-15
3. Refractory rickets: A case of X-linked hypophosphatemic rickets (PHEX gene variation);Journal of Pediatric Endocrinology and Diabetes;2024-05-27
4. Diagnosis and management of X-linked dominant hypophosphatemic rickets;2023-09-22
5. Pathogenic Variants of the PHEX Gene;Endocrines;2022-08-08
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