Diagnostic challenges in metabolic myopathies
Author:
Affiliation:
1. Neuromuscular Center, IRCCS San Camillo Hospital, Venice, Italy
2. Peripheral Nervous System and Muscle Department, Université Cote d’Azur, CHU, Nice, France
Funder
AFM-Telethon 22032 grant and Biobank BBMRNR, part of the BBMRI-ERIC network
Publisher
Informa UK Limited
Subject
Pharmacology (medical),Clinical Neurology,General Neuroscience
Link
https://www.tandfonline.com/doi/pdf/10.1080/14737175.2020.1825943
Reference94 articles.
1. An update on diagnosis and therapy of metabolic myopathies
2. Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy
3. Skeletal muscle disorders of glycogenolysis and glycolysis
4. The First Year Experience of Newborn Screening for Pompe Disease in California
Cited by 8 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. Pompe disease ascertained through The Lantern Project, 2018–2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis;Molecular Genetics and Metabolism;2023-05
2. Metabolic Myopathies in the Era of Next-Generation Sequencing;Genes;2023-04-22
3. Metabolic and Mitochondrial Myopathies;Clues for Differential Diagnosis of Neuromuscular Disorders;2023
4. European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders;European Journal of Neurology;2022-09-14
5. A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy;Neuromuscular Disorders;2022-07
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