Clinical, radiographic and biochemical characteristics of adult hypophosphatasia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology, Diabetes and Metabolism
Link
http://link.springer.com/article/10.1007/s00198-017-4087-z/fulltext.html
Reference40 articles.
1. Weiss MJ, Cole DE, Ray K, Whyte MP, Lafferty MA, Mulivor RA, Harris H (1988) A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci U S A 85(20):7666–7669
2. Fraser D (1957) Hypophosphatasia. Am J Med 22(5):730–746
3. Mornet E (2015) Molecular genetics of hypophosphatasia and phenotype-genotype correlations. Subcell Biochem 76:25–43. doi: 10.1007/978-94-017-7197-9_2
4. Mornet E, Yvard A, Taillandier A, Fauvert D, Simon-Bouy B (2011) A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet 75(3):439–445. doi: 10.1111/j.1469-1809.2011.00642.x
5. McKiernan FE, Berg RL, Fuehrer J (2014) Clinical and radiographic findings in adults with persistent hypophosphatasemia. J Bone Miner Res 29(7):1651–1660. doi: 10.1002/jbmr.2178
Cited by 85 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. Circulating Micro-RNAs in Patients with Hypophosphatasia Results of the first micro-RNA analysis in HPP;2024-07-17
2. Role of PLP-Level as a predictive marker for oral health status in adult hypophosphatasia;Clinical Oral Investigations;2024-07-08
3. Hereditary human diseases with skeletal pathology – molecular pathogenesis and clinical characteristics;Meditsinskiy sovet = Medical Council;2024-05-11
4. Hypophosphatasia Presenting as a Chronic Diffuse Pain Syndrome with Extra-Articular Calcifications;Journal of Clinical Medicine;2024-04-13
5. New Empirical Bayes Models to Jointly Analyze Multiple RNA-Sequencing Data in a Hypophosphatasia Disease Study;Genes;2024-03-26
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