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- Depending on deficiency of the enzyme,MCD is divided into two kinds of different forms,biotinidase deficiency (BTD,OMIM 253260) and HLCS deficiency (HLCSD,OMIM 253270). 根据缺陷酶的不同,MCD分为生物素酶缺陷和全羧化酶合成酶缺陷两类。目前报道的生物素酶基因突变超过80余种,全羧化酶合成酶基因突变20多种。
- Abstract: Objective To investigate the clinical and laboratory profiles of a patient with pustular psoriasis-like skin lesion and cerebral palsy due to biotinidase deficiency. 摘 要: 目的探讨因生物素酶缺乏症所致皮肤、神经损害患儿的临床特征、诊断与治疗方法。
- Keywords Childen;Multiple carboxylase deficiency;Biotinidase deficiency;Holocarboxylase synthetase deficiency;Gene mutation; 儿童;多源性羧化酶缺乏;生物素酶缺陷;全羧化酶合成酶缺陷;基因突变;
- I have a slight calcium deficiency. 我有点缺钙。
- Biotinidase deficiency 生物素酶缺乏, 生物素酰胺酶缺乏症
- The child has a calcium deficiency. 那孩子缺钙。
- The deficiency of this plan is very clear and it can't possibly succeed. 这项计划的缺陷是很明显的,它不可能成功。
- The deficiency in this plan is very clear. 这个计划的不足之处显而易见。
- The result in either case is an energy deficiency. 不论哪种情况结果都会导致能量损失。
- It is diligence that makes up for deficiency. 勤能补拙。
- The deficiency in this plan be very clear . 这个计划的不足之处显而易见。
- A deficiency of Vitamin ??results in rickets. 缺乏维生素?业贾仑?偻
- Acquired Immune Deficiency Syndrome. 全称获得性免疫功能丧失综合症。
- Vitamin deficiency in the diet can cause illness. 饮食中缺乏维生素可能导致疾病。
- To help overcome iron deficiency. 有很多种不同的自然疗法来帮助克服缺铁。
- Selenium Deficiency the Inner Cause of Avian Flu? 是什么导致禽流感?
- Iodine deficiency is another terrible problem. 碘缺乏症是另一个可怕的问题。
- An excess of yin leads to yang deficiency. 阴盛阳衰
- You have a quality deficiency issue, correct? 你有品质瑕疵方面的问题,是吧!
- A loss is a deficiency of some sort. 损失是一种差额或不足。