An overview of a cohort of South African patients with mitochondrial disorders
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-009-9031-8
Reference25 articles.
1. Brown MD, Starikovskaya E, Derbeneva O et al (2002) The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. Hum Genet 110:130–138
2. Darin N, Oldfors A, Moslemi A-R, Holme E, Tulinius M (2001) The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities. Ann Neurol 49:377–383
3. Debray F, Lambert M, Chevalier I et al (2007) Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial disease. Pediatrics 119:722–733
4. Herrnstadt C, Howell N (2004) An evolutionary perspective on pathogenic mtDNA mutations: Haplogroup associations of clinical disorders. Mitochondrion 4:791–798
5. Janssen AJM, Trijbels FJM, Sengers RCA et al (2007) Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts. Clin Chem 53:729–734
Cited by 19 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. Role of oxidative stress and mitochondria dysfunction in Diabetes mellitus disease;2024 International Conference on Science, Engineering and Business for Driving Sustainable Development Goals (SEB4SDG);2024-04-02
2. The advantages of rare disease biobanking: A localised source of genetic knowledge to benefit the South African rare disease community and related stakeholders worldwide;South African Medical Journal;2023-12-04
3. Clinical, biochemical, and histopathological diagnosis of Egyptian paediatric patients with suspected mitochondrial diseases: A hospital‑based study;South African Journal of Child Health;2023-03-10
4. Knowledge and awareness of mitochondrial diseases among physicians in the tertiary hospitals in Ghana;PLOS ONE;2022-10-20
5. A broad comparative genomics approach to understanding the pathogenicity of Complex I mutations;Scientific Reports;2021-10-01
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