[1] Grüner SC.Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency[J].Orphanet J Rare Dis,2014,9:117-124.
[2] Mumtaz HA,Gupta V,Singh P,et al.MR imaging findings of glutaric aciduria type Ⅱ[J].Singapore Med J,2010,51(4):e69-e71.
[3] Tamaoki Y,Kimura M,Hasegawa Y,et al.A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000[J].Brain Dev,2002,24(7):675-680.
[4] Han LS,Ye J,Qiu WJ,et al.Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China:a four-year report[J].J Inherit Metab Dis,2007,30(4):507-514.
[5] 温冰,焉传祝.中国人核黄素反应性脂质沉积性肌病多是由ETFDH基因突变所致[J].中华神经科杂志,2010,43(5):363.
[6] 章瑞南,邱文娟,叶军,等.多种酰基辅酶A脱氢酶缺乏症儿童与成人患者临床特点比较[J].临床儿科杂志,2012,30(5):446-449.
[7] Liang WC,Tsai KB,Lai CL,et al.Riboflavin-responsive glutaric aciduria type Ⅱ with recurrent pancreatitis[J].Pediatr Neurol,2004,31(3):218-221.
[8] Olsen RK,Andresen BS,Christensen E,et al.Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency[J].Hum Mutat,2003,22(1):12-23.
[9] Cornelius N,Frerman FE,Corydon TJ,et al.Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency[J].Hum Mol Genet,2012,21(15):3435-3448.