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- 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。
- 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'?
- Inherited metabolic diseases presented with hepatosplenomegaly 以肝脾肿大为主要表现的遗传代谢性疾病
- 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
- 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。
- 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。
- inherited metabolic disease 遗传性代谢病
- 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。
- 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。
- Meanwhile,more and more endocrine and metabolic diseases caused by monogenic mutations have been discovered. 同时,越来越多的单基因突变所致的内分泌代谢疾病被发现。
- 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。
- Djabetes mellitus is a group of metabolic diseases characterized by hyperglycemia resulting from defects in insulin secretion.insulin action. or both. 糖尿病是一种因胰岛素分泌绝对或相对不足而引起的以高糖血症为主要特征的代谢性疾病,其可导致眼、肾、神经、心脏及血管等多器官损害。
- The condition is a characteristic of or risk factor for many metabolic diseases, including diabetes, hypertension, atherosclerosis, and cancer. 这是很多代谢性疾病的典型的或危险度因子,包括糖尿病、高血压、动脉粥样硬化和癌症。
- Moreover, it contributes to the elucidation of the pathophysiological mechanisms of atherosclerosis and some metabolic diseases. 同时也为研究动脉粥样硬化和高脂血症等多种代谢疾病的发病机理提供了重要证据。
- Children with chronic hepatitis B virus (HBV) infection and underlying metabolic diseases are the two main high risk groups for childhood HCC. 受B型肝炎病毒感染以及具遗传代谢性疾病之儿童乃肝细胞癌之好发群。