Addressing the Needs of Patients with Ultra-Rare Mutations One Patient at a Time: The n-Lorem Approach
Author:
Affiliation:
1. n-Lorem Foundation, Carlsbad, California, USA.
Publisher
Mary Ann Liebert Inc
Subject
Drug Discovery,Genetics,Molecular Biology,Molecular Medicine,Biochemistry
Link
https://www.liebertpub.com/doi/pdf/10.1089/nat.2021.0046
Reference21 articles.
1. A call to arms against ultra-rare diseases
2. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
3. Prevalence and practice for rare diseases in primary care: a national cross-sectional study in the USA
4. Rare Diseases: Addressing the Challenges in Diagnosis, Drug Approval, and Patient Access
5. Rare Disease Terminology and Definitions—A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group
Cited by 11 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. A Multistakeholder Perspective on Advancing Individualized Therapeutics;Clinical Pharmacology & Therapeutics;2023-09-13
2. Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for ultra-rare inherited bleeding disorders;Expert Review of Hematology;2023-03-15
3. Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides;Nucleic Acid Therapeutics;2023-02-01
4. Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations;RNA;2023-01-20
5. Evaluating human mutation databases for “treatability” using patient-customized therapy;Med;2022-11
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