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1)  hereditary metabolic disease
遗传代谢性疾病
1.
Present research reveals that 25% fatal LCHAD deficiency are associated with neonatal hereditary metabolic disease and the recurrence in subsequent pregnancies is unknown,h
据报道25%新生儿可能因LCHAD缺陷导致遗传代谢性疾病发生,而AFLP再发风险未知,因此对于高危孕妇及AFLP患者子代进行基因检测及随访十分必要。
2)  Inherited metabolic liver disease
遗传性肝脏代谢性疾病
3)  Hereditary endocrine and metabolic diseases
遗传性内分泌代谢疾病
4)  Inborn errors of metabolism
遗传性代谢病
5)  inherited metabolic liver disorders
遗传代谢性肝病
1.
Comparative study of liver fibrosis in several kinds of inherited metabolic liver disorders;
几种重要遗传代谢性肝病肝纤维化的比较研究
6)  inherited metabolic diseases
遗传代谢病
1.
Clinical application of hematopoietic stem cell transplantation in the treatment of childhood inherited metabolic diseases;
造血干细胞移植在遗传代谢病治疗中的应用
2.
Clinical features and analysis of inherited metabolic diseases in neonatal intensive care unit;
新生儿重症监护病房中遗传代谢病的临床特点及分析
补充资料:遗传性代谢障碍性肝硬化


遗传性代谢障碍性肝硬化
cirrhosis in genetic disorders

由各种不同遗传性代谢障碍引起的肝硬化。如糖原贮积病、半乳糖血症、遗传性酪氨酸血症、遗传性果糖不耐受症、α1抗胰蛋白酶缺乏症、地中海贫血、铁传递蛋白缺乏血症、吡哆醇依赖性贫血症、Wilson病、血色病、β脂蛋白缺乏血症等。此类肝硬化多发生于儿童,可有肝脏肿大,其他脏器常受累,早期出现肝功能衰竭。
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