Clinical and genetic variability of glycogen storage disease type IIIa: Seven novelAGL gene mutations in the mediterranean area
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference22 articles.
1. Human Glycogen Debranching Enzyme Gene (AGL): Complete Structural Organization and Characterization of the 5′ Flanking Region
2. Debranching enzyme from rabbit skeletal muscle; Evidence for the location of two active centres on a single polypeptide chain
3. Glycogen Storage Disease Type III (Glycogen Debranching Enzyme Deficiency): Correlation of Biochemical Defects with Myopathy and Cardiomyopathy
4. Debrancher deficiency: Neuromuscular disorder in 5 adults
5. Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III
Cited by 33 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 retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III;Molecular Genetics and Metabolism Reports;2021-12
2. Hepatic glycogen storage diseases: pathogenesis, clinical symptoms and therapeutic management;Archives of Medical Science;2021-02-26
3. Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype‐specific: An investigator‐initiated, randomized, crossover study;Journal of Inherited Metabolic Disease;2020-09-07
4. Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience;Diagnostics;2020-05-13
5. Myopathies Related to Glycogen Metabolism Disorders;Neurotherapeutics;2018-10
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