@article {EmmanueleP2.013作者={瓦伦蒂娜名叫Emmanuele和Jaya Ganesh Georgirene Vladutiu和理查德·哈斯和查尔斯Hoppel道格拉斯·克尔和罗素Saneto布鲁斯·科恩和约翰范霍夫和费尔南多Scaglia Xiomara罗萨莱斯和埃巴萨和理查德Buchsbaum约翰•汤普森和萨尔瓦多DiMauro渡Hirano和北美的线粒体疾病财团(NAMDC)}, title ={线粒体疾病的诊断标准,以促进研究的发展:从北美线粒体疾病财团提议。体积(P2.013)} ={90} ={15}补充数量,elocation-id = {P2.013} ={2018},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={目的:开发更新研究初级线粒体疾病的诊断标准。首页背景:线粒体疾病是临床、生化反应和遗传异质性,因此具有挑战性的分类和诊断。自出版原始线粒体疾病的诊断标准超过10年前,有爆炸的表型和基因型的数据,包括许多新颖的分子遗传缺陷的识别。将这个新的信息,协调诊断标准及术语,我们建议修订为线粒体疾病的诊断标准。设计/方法:北美线粒体疾病财团(NAMDC)建立了一个诊断标准委员会。具有不同专长的组成成员,小组包括:临床医生、研究人员、诊断实验室董事、统计学家和数据管理。文学的委员会进行了全面审查,评估当前的临床实践,诊断模式,调查,电话会议达成共识,以建立和验证线粒体疾病的诊断标准。更加强调了分子遗传的线粒体疾病的诊断标准。改进现有的诊断标准后实现自动和手动的应用标准病人参加NAMDC注册表。结果:该委员会产生共识的标准规范和非规范的线粒体综合症的临床定义和实现的确定性水平(定、怀疑和不太可能)在线粒体疾病的诊断。结论:建立在现有诊断标准和集成的扩大知识领域,NAMDC生成更新研究线粒体疾病的诊断标准。NAMDC研究诊断标准将是非常有益的,以证实或排除线粒体疾病诊断,并提高入学率在未来自然历史研究和临床试验。披露:名叫Emmanuele博士没有披露。 Dr. Ganesh has nothing to disclose. Dr. Vladutiu has nothing to disclose. Dr. Haas has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Stealth BioTherapeutics. Dr. Haas has received research support from Stealth BioTherapeutics. Dr. Hoppel has nothing to disclose. Dr. Kerr has nothing to disclose. Dr. Saneto has nothing to disclose. Dr. Cohen has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Stealth Biotheraputics. Dr. Van Hove has nothing to disclose. Dr. Scaglia has nothing to disclose. Dr. Rosales has nothing to disclose. Dr. Barca has nothing to disclose. Dr. Buchsbaum has nothing to disclose. Dr. Thompson has nothing to disclose. Dr. DiMauro has nothing to disclose. Dr. Hirano has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Meves Pharmaceuticals Inc., Stealth BioTherapeutics Inc, and Sarepta Therapeutics Inc. Dr. (NAMDC) has nothing to disclose.}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/90/15_Supplement/P2.013}, eprint = {//www.ez-admanager.com/content}, journal = {Neurology} }