carnitine deficiency meaning in Chinese

肉毒碱缺乏病
肉碱缺乏病

Examples

Carnitine is essential to human for the transportation of lipid which is required for generation of energy in cells . carnitine deficiency impairs energy generation
脂肪酸在细胞内进行分解而产生能量，当细胞缺乏卡尼丁时，便无法生产能量，影响正常运作。
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。
Among the definable underlying diseases , 31 . 0 % were diagnosed as inherited metabolic disorders , including mitochondrial disorders ( n = 4 ) , primary systemic carnitine deficiency ( n = 1 ) , pompe disease ( n = 3 ) and mucopolysaccharidosis ( mps ) i ( n = 1 )
此外在这个研究分析中发现，有很大部分的心肌病变儿童( 50 % )并未找到造成疾病的根本原因；并且这部分的儿童亦未曾接受过适当的遗传与代谢疾病筛检。
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。

carnitine deficiency meaning in Chinese

Examples

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