A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene.
作者信息
Zhao Zhang-Ning, Bao Meng-Xin, Ma Gao-Ting, Liu Xiao-Min, Xu Wen-Juan, Sun Zhong-Wen, Chen Huan, Zhu Mei-Jia
出版信息
CNS Neurosci Ther. 2012 Nov;18(11):952-4. doi: 10.1111/cns.12007.
Abstract
摘要
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Neurol Sci. 2012 Dec;33(6):1383-7. doi: 10.1007/s10072-011-0900-1. Epub 2011 Dec 22.
2
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.对来自中国南方的 51 个无关联家系的迟发性多发性酰基辅酶 A 脱氢酶缺乏症（MADD）进行分子分析，证实最常见的 ETFDH 突变和 c.250G>A 的高携带者频率。
J Mol Med (Berl). 2011 Jun;89(6):569-76. doi: 10.1007/s00109-011-0725-7. Epub 2011 Feb 24.
3
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.台湾地区迟发性脂质贮积性肌病患者 ETFDH c.250G>A 突变频率较高。
Clin Genet. 2010 Dec;78(6):565-9. doi: 10.1111/j.1399-0004.2010.01421.x.
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Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations.由 ETFDH 基因突变引起的反应性脂质贮积性肌病。
J Neurol Neurosurg Psychiatry. 2010 Feb;81(2):231-6. doi: 10.1136/jnnp.2009.176404. Epub 2009 Sep 15.
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Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.日本2型戊二酸血症病例的临床及分子研究
Mol Genet Metab. 2008 May;94(1):61-7. doi: 10.1016/j.ymgme.2008.01.002. Epub 2008 Mar 4.
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