primary carnitine deficiency中文是什么意思

• 卡尼丁缺乏症

• primary    adj. 1.第一的，最初的，初级的；初等的；基本的；基 ...
• carnitine    n. 【生物化学】肉碱。
• deficiency    n. 1.缺乏，不足，短缺。 2.缺陷。 3.不足额；亏 ...
• carnitine deficiency syndrome, primary    原发性肉碱缺乏症
• carnitine deficiency    肉毒碱缺乏病; 肉碱缺乏病
• carnitine palmityltransferase deficiency    肉毒碱棕榈酰基转移酶缺陷症
• muscle carnitine deficiency    肌肉肉毒碱缺乏症
• systemic carnitine deficiency    全身肉碱缺乏症; 系统性肉毒碱缺乏
• primary deficiency    原发性缺乏
• isolated primary igm deficiency    孤立性原发性igm缺乏
• primary adrenal deficiency    原发性肾上腺功能缺乏
• primary copper deficiency    原发性铜缺乏
• primary dietary deficiency    原发性膳食性营养缺乏病
• primary immune deficiency disorder    原发性免疫缺陷病症
• primary immunologic deficiency    原发性免疫缺陷
• primary mental deficiency    先天性心智不足
• primary nutritional deficiency    原发性营养缺乏
• primary pyruvate kinase deficiency    原发性丙酮酸激酶缺乏症
• primary testicular function deficiency    原发性睾丸功能低下
• acyl carnitine    脂酰肉碱
• carnitine acetyltransferase    肉毒碱乙酰转移酶
• carnitine acyltransferasc    肉碱脂酰基转移酶
• carnitine acyltransferase    肉碱酰基转移酶
• carnitine and oxidationon    肉碱和
• carnitine barrier    肉碱屏障

• Primary carnitine deficiency was diagnosed as the cause for the sudden death in both children . this was the first case of primary carnitine deficiency in hong kong
  邓教授培植了猝死婴儿的皮下细胞，在进行多方面的检验后，确定该名婴儿因患有卡尼丁缺乏症而致死。
• A gene associated with primary carnitine deficiency , now called 0ctn2 was identified . mutations in 0ctn2 lead to this life - threatening disease . now , early genetic diagnosis of affected child is possible and appropriate treatments can be provided well in advance
  此项发现能准确地确定患者的遗传基因病变，及在患病家庭中分辨出携带基因者及患病者,从而可以及早进行适当的治疗。
• Primary carnitine deficiency is a genetic disease , which shows no apparent symptoms in either the parent or the infant . however , the affected child is threatened with the danger of sudden death before the age of one . cardiomyopathy may develop in their later childhood
  有这种遗传病的家庭父母一般都没有明显病徵，而患病的儿童可能在婴儿时期（一般在一岁前）出现急性病徵，包括不省人事、低血醣，严重者会导致猝死。