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- Hypophosphatasia is a rare inherited metabolic disease characterized by rickets with reduced plasma and tissue alkaline phosphatase activity. 摘要先天性磷酸酶缺乏症为一少见之代谢性疾病,其主要特徵为血清及组识之硷性磷酸酶下降以及佝偻症。
- Hypophosphatasia is a rare inherited metabolic disease of decreased tissue nonspecific alkaline phosphatase (TNSALP) and defective bone mineralization. 什麽是'低磷酸酯酶症-罕见的遗传性代谢疾病导致降低骨矿化'?
- Multiple carboxylase deficiency (MCD) is an autosomal recessive disorder of inherited metabolic diseases. 多种羧化酶缺陷症(MCD)是一种常染色体隐性遗传的先天遗传代谢性疾病。
- Objective To sublimate the cognition of inherited metabolic diseases (IED) and enhance the rate of early diagnosis. 摘要目的提高临床医生对重症监护病房新生儿期发生的遗传代谢病的认识,提高早期诊断率。
- Other: Some inherited metabolic diseases, perinatal and neonatal asphyxia, severe lack of vitamin A and so on. 其他:某些遗传性代谢病、围产期及新生儿窒息、严重的维生素A缺乏等。
- Inherited metabolic diseases presented with hepatosplenomegaly 以肝脾肿大为主要表现的遗传代谢性疾病
- inherited metabolic disease 遗传性代谢病
- 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
- inherited metabolic diseases 遗传代谢病
- Congenital lactose intolerance is very rare and is an inherited metabolic disorder rather than an allergy. 先天性的乳糖不耐受是非常罕见的遗传性的代谢紊乱,而并非过敏。
- Profiling metabolic disease before symptoms appear may also be possible. 而想在症状出现前诊断出代谢疾病,看来也是可行的。
- Abstract : Ketosis is a common nutrition metabolic disease of dairy cows. 摘要 : 酮病是奶牛的一种重要的营养代谢病。
- inherited metabolism disease 遗传性代谢病
- Methylmalonic acidemia is an inherited metabolic disorder, which is caused by deficiency of methylmalonyl-coenzyme A mutase or its cofactor adenosylcobalamin. 甲基丙二酸血症是由于甲基丙二酰辅酶A变位酶或其辅酶腺苷钴胺素缺陷所致的一种遗传性代谢疾病。
- Methylmalonic acidemia is an inherited metabolic disorder,which is caused by deficiency of methylmalonyl-coenzyme A mutase or its cofactor adenosylcobalamin. 甲基丙二酸血症是由于甲基丙二酰辅酶A变位酶或其辅酶腺苷钴胺素缺陷所致的一种遗传性代谢疾病。
- Herein, we briefly describe the latest advances of the research on the genetic diagnosis of monogenetic inherited endocrine and metabolic diseases and its clinical utility. 本文将概述单基因遗传性内分泌代谢病的基因诊断及其临床应用方面的最新研究进展。
- Diabetes mellitus is a complex metabolic disease characterised by glucose overproduction and under-utilisation. 糖尿病是一种由于内源性胰岛素相对或绝对不足而引起的糖代谢紊乱的疾病。
- The nutritional metabolic disease in yaks was associated with a trace element deficiency of seasonal dynamics. 牧草微量元素含量的季节性变化可能是牦牛营养代谢疾病的主要原因。
- Other trace elements have been observed with phenylketonuria, an inherited metabolic disorder, and kwashiorkor, a severe form of malnutrition that occurs mainly in developing nations. 在苯丙酮尿症(一种先天性代谢失调)和恶性营养不良(一种主要发生在发展中国家的严重营养不良)患者的毛发中,也观察到了其它种微量元素。
- In the past,the diagnosis of inherited endocrine and metabolic diseases largely depended on the clinical manifestations,biochemical examinations and genetic modes. 对于遗传性内分泌代谢病的诊断,以往主要依赖临床表型分析和生化检查,同时结合其遗传模式。