Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes
Author:
Funder
University of Gothenburg
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-016-0011-5.pdf
Reference27 articles.
1. Barnerias C, Saudubray JM, Touati G et al (2010) Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. Dev Med Child Neurol 52(2):e1–e9
2. Cederbaum SD, Blass JP, Minkoff N, Brown WJ, Cotton ME, Harris SH (1976) Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency. Pediatr Res 10(8):713–720
3. DeBrosse SD, Okajima K, Zhang S et al (2012) Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype. Mol Genet Metab 107(3):394–402
4. Di Pisa V, Cecconi I, Gentile V et al (2012) Case report of pyruvate dehydrogenase deficiency with unusual increase of fats during ketogenic diet treatment. J Child Neurol 27(12):1593–1596
5. El-Gharbawy AH, Boney A, Young SP, Kishnani PS (2011) Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet. Mol Genet Metab 102(2):214–215
Cited by 154 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. Categorizing Monogenic Epilepsies by Genetic Mechanisms May Predict Efficacy of the Ketogenic Diet;Pediatric Neurology;2024-11
2. Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency;Molecular Genetics and Metabolism Reports;2024-09
3. Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet;American Journal of Medical Genetics Part A;2024-07-26
4. Pyruvate dehydrogenase deficiency in a young boy: a clinical case;Journal of Clinical Practice;2024-07-15
5. Ketogenic Diet and Progression of Kidney Disease in Animal Models of Nephropathic Cystinosis;Journal of the American Society of Nephrology;2024-07-12
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