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    Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing

    Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing oleh Dan-Yan Zhuang, Shu-Xia Ding, Fei Wang, Xiang-Chun Yang, Xiao-Li Pan, You-Wei Bao, Li-ming Zhou, Hai-bo Li

    Diterbitkan 2022-01-01
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