...
机译:框内缺失的杂合性导致新生儿筛查发现患者的戊二酰辅酶A脱氢酶缺乏症:突变等位基因影响的研究
Research Unit for Molecular Medicine, Aarhus University Hospital and Aarhus University, Institute of Clinical Medicine, Aarhus, Denmark;
Research Unit for Molecular Medicine, Aarhus University Hospital and Aarhus University, Institute of Clinical Medicine, Aarhus, Denmark;
Research Unit for Molecular Medicine, Aarhus University Hospital and Aarhus University, Institute of Clinical Medicine, Aarhus, Denmark;
Research Unit for Molecular Medicine, Aarhus University Hospital and Aarhus University, Institute of Clinical Medicine, Aarhus, Denmark;
Research Unit for Molecular Medicine, Aarhus University Hospital and Aarhus University, Institute of Clinical Medicine, Aarhus, Denmark;
Research Unit for Molecular Medicine, Aarhus University Hospital and Aarhus University, Institute of Clinical Medicine, Aarhus, Denmark;
Department of Clinical Genetics, Juliane Marie Center, Rigshospitalet, Copenhage;
机译:框内缺失的杂合性导致新生儿筛查发现的患者戊二酰辅酶A脱氢酶缺乏症:突变等位基因影响的研究
机译:超长链酰基辅酶A脱氢酶缺乏症:通过新生儿筛查发现的意外脂肪负荷对患者的影响
机译:基于MS / MS的新生儿和家庭筛查可发现无症状的超长链酰基辅酶A脱氢酶缺乏症患者。
机译:中链酰基乙酰脱氢酶缺乏症(MCADD)突变筛查患者的突变敏感筛选
机译:新生儿筛查3-甲基巴豆酰辅酶A羧化酶缺乏症的结果
机译:非常长的酰基 - 辅酶脱氢酶缺乏:患有扩增新生儿筛查计划的检测到患者的高发病率
机译:非常长的酰基 - 辅酶脱氢酶缺乏:患有扩增新生儿筛查计划的检测到患者的高发病率