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Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency |
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| Authors: | Chen Ting Tong Fan Wu Xiao-yu Zhu Ling Yi Qiu-zi Zheng Jing Yang Ru-lai Zhao Zheng-yan Cang Xiao-hui Shu Qiang Jiang Ping-ping |
| Institution: | 1.Division of Medical Genetics and Genomics, The Children’s Hospital, Zhejiang University School of Medicine/National Clinical Research Center for Child Health, Hangzhou, 310052, China ;2.Institute of Genetics and Department of Human Genetics, Zhejiang University School of Medicine, Hangzhou, 310058, China ; |
| Abstract: | Journal of Zhejiang University-SCIENCE B - The pathogenesis of very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is highly heterogeneous and still unclear. Additional novel variants have... |
| Keywords: | Mitochondrial dysfunction Very-long-chain acyl-CoA dehydrogenase (VLCAD) β-Oxidation Molecular dynamics (MD) simulation |
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