标题:A Patient with Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenation Deficiency Manifesting as Decreased Serum Total Acyl-Carnitine and Free Carnitine
作者:bing wen;chuanzhu yan;
作者机构:[bing wen;chuanzhu yan]Laboratory of Neuromuscular Disorders and Department of Neurology of Qilu Hospital,Shandong University,Jinan,China
来源:Program & Abstracts of the 12th Annual Asian and Oceanian Myology Center (AOMC) Scientific Meeting
出版年:2013
关键词:gene;A Patient with Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenation Deficiency Manifesting as Decreased Serum Total Acyl-Carnitine and Free Carnitine;
摘要:Objective We report a male case with late-onset riboflavin-responsive multiple acyI-CoA dehydrogenation deficiency(MADD) characterized by muscle weakness,muscle pain and intermittent vomiting after the age of 23.
资源类型:会议论文
原文链接:http://kns.cnki.net/kns/detail/detail.aspx?FileName=ZHYX201306002140&DbName=IPFD2014
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