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浏览/检索结果: 共3条，第1-3条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum 期刊论文 Neurological sciences, 2015, 卷号: 36, 期号: 6, 页码: 853-859 作者:  Wen, Bing;  Li, Duoling;  Li, Wei;  Zhao, Yuying;  Yan, Chuanzhu 收藏  |  浏览/下载：4/0  |  提交时间：2019/12/17 Riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency (MADD)  ETFDH gene  Primary systemic carnitine deficiency (CDSP)  Riboflavin  Carnitine   Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G > A 期刊论文 JOURNAL OF MOLECULAR MEDICINE-JMM, 2011, 卷号: 89, 期号: 6 作者:  Wang, Zhi-Qiang;  Chen, Xue-Jiao;  Murong, Shen-Xing;  Wang, Ning;  Wu, Zhi-Ying 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/19 Multiple acyl-CoA dehydrogenation deficiency (MADD)  Electron transfer flavoprotein dehydrogenase (ETFDH)  Genotype-phenotype  Mutation analysis  Riboflavin-responsive   Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in the southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G > A 会议论文 作者:  Wang, Zhi-Qiang;  Chen, Xue-Jiao;  Murong, Shen-Xing;  Wang, Ning;  Wu, Zhi-Ying 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/19