Late onset riboflavin responsive lipid myopathy with multiple acyl-CoA dehydrogenase deficiency: Report of four patients

Rojas-Marcos I.; Rubi J.; Blazquez A.; Carbonell P.; De Torres R.; Dominguez-Mayoral A.; Avilla R.; Martin-Casanueva M.; Gutierrez C.; Marquez-Infante C.; Rivas E.; Paradas C.; Dominguez-Gonzalez C.

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Late onset riboflavin responsive lipid myopathy with multiple acyl-CoA dehydrogenase deficiency: Report of four patients

机译：迟发性核黄素反应性脂质肌病伴多酰基辅酶A脱氢酶缺乏症：四例报告

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《Neuromuscular disorders: NMD》 |2016年第2期|共2页
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Rojas-Marcos I.; Rubi J.; Blazquez A.; Carbonell P.; De Torres R.; Dominguez-Mayoral A.; Avilla R.; Martin-Casanueva M.; Gutierrez C.; Marquez-Infante C.; Rivas E.; Paradas C.; Dominguez-Gonzalez C.;
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正文语种 eng
中图分类神经病学;
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1. Late onset riboflavin responsive lipid myopathy with multiple acyl-CoA dehydrogenase deficiency: Report of four patients [J] . Rojas-Marcos I., Rubi J., Blazquez A., Neuromuscular disorders: NMD . 2016,第Suppla2期

机译：迟发性核黄素反应性脂质肌病伴多酰基辅酶A脱氢酶缺乏症：四例报告
2. A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene [J] . Zhuo Zhihong, Jin Peina, Li Fengyan, Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology . 2015,第1a2期

机译：ETFDH基因新突变的迟发性核黄素反应性多酰基辅酶A脱氢酶缺乏症（MADD）一例
3. A Case of Late-onset Riboflavin Responsive Multiple acyl-CoA Dehydrogenase Deficiency with Novel Mutations in ETFDH Gene [J] . ZhaoZ.-N., BaoM.-X., MaG.-T., CNS neuroscience & therapeutics . 2012,第11期

机译：ETFDH基因突变的迟发性核黄素反应性多酰基辅酶A脱氢酶缺乏症一例
4. Mutation typing in patients with medium chainAcylCoA dehydrogenase deficiency (MCADD) andPCR based mutation screening in SIDS victims [C] . D. Krause, K. Jachau, K. Mohnike, International Society for Forensic Genetics . 2006

机译：中链酰基乙酰脱氢酶缺乏症（MCADD）突变筛查患者的突变敏感筛选
5. Discussion of the potential benefits, implications and applications of research and data on parental experiences of children identified as a carrier for medium-chain acyl-CoA dehydrogenase deficiency. [D] . Davar, Ushtavaity V. 2005

机译：讨论被确定为中链酰基辅酶A脱氢酶缺乏症携带者的儿童的父母经验的研究和数据的潜在益处，影响和应用。
6. Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations [O] . Wei Chen, Youqiao Zhang, Yifeng Ni, 2019

机译：迟发性核黄素反应性多酰基辅酶A脱氢酶缺乏症（MADD）：ETFDH基因突变的病例报告和流行病学
7. Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations [O] . Wei Chen, Youqiao Zhang, Yifeng Ni, 2019

机译：晚期核糖蛋白响应多酰基-CoA脱氢酶缺乏（MADD）：ETFDH基因突变的病例报告和流行病学

Late onset riboflavin responsive lipid myopathy with multiple acyl-CoA dehydrogenase deficiency: Report of four patients

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