[一个新生儿发病的I型超脂蛋白血症病例,伴有血]
Yuan-Yuan Chen1, Li-Yuan Hu1, Ke Zhang1
1Department of Neonatology, Children's Hospital of Fudan University/National Children's Medical Center, Shanghai 201102, China (Wang J, Email: drwangjin@fudan.edu. cn).
一例新生儿家族性高脂蛋白血症病例呈现出血和发烧,模仿急性胰腺炎. 基因分析确定了LPL基因中的复合异构变异,证实了诊断和指导治疗.
科学领域:
- 遗传学 遗传学 是一个
- 生物化学 生物化学
- 儿科 儿科 儿科
背景情况:
- 家庭性高脂蛋白血症 (FHL) 是一组遗传性疾病,其特点是血液中的脂质含量高.
- 新生儿FHL的呈现可能是严重的,并模仿其他急性疾病,造成诊断挑战.
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