机译:当一种疾病不够时:琥珀酰基 - 辅酶:3-氧代辛酸辅酶A转移酶(SCOT)缺乏,由于婴儿的羟基葡萄尿中的牛蒡子1中的新突变
Department of General Pediatrics and Neonatology Perinatal Center Evangelisches Krankenhaus;
Department of General Pediatrics and Neonatology Perinatal Center Evangelisches Krankenhaus;
Department of General Pediatrics and Neonatology Perinatal Center Evangelisches Krankenhaus;
Department of General Pediatrics Münster University Children’s Hospital Münster Germany;
Bioanalytics and Biochemistry Department of Natural Sciences Bonn-Rhein-Sieg University of;
Department of General Pediatrics Münster University Children’s Hospital Münster Germany;
ketolysis; metabolic acidosis; phenylketonuria;
机译:当一种疾病不够时:琥珀酰基 - 辅酶:3-氧代辛酸辅酶A转移酶(SCOT)缺乏,由于婴儿的羟基葡萄尿中的牛蒡子1中的新突变
机译:导致生命危险的酮症酸中毒的罕见原因:新型化合物杂合子OXCT1突变引起琥珀酰CoA:3-酮酸CoA转移酶缺乏症
机译:琥珀酰辅酶A:3-酮酸辅酶A转移酶(SCOT):针对人类SCOT的抗体的开发以及遗传性SCOT缺乏症的诊断用途
机译:危及生命的酮症酸中毒的罕见原因:新型化合物杂合子OXCT1突变引起琥珀酰-CoA:3-酮酸CoA转移酶缺乏症
机译:琥珀酰库的情况:3-氧代酸COA转移酶缺乏,含有严重酸中毒,在14个月龄女性中呈现:牛蒡基因中点突变的致病性致病性