The technology works on mice and men; a team in China recently revealed they had partially succeeded in excising the gene for beta thalassaemia, an inherited blood disorder, from a human embryo. 这种技术可以用于小鼠和人类;中国的一个科研小组最近透露,他们从一个人类胚胎上切除β-地中海贫血症(一种遗传性血液疾病)基因的操作取得了部分成功。
Gaucher disease is an inherited disorder that is caused by a deficiency in an enzyme called glucocerebrosidase. 戈谢病是一种遗传性疾病,是由缺乏一种名为葡萄糖脑苷脂酶的酶引起的。
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。
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。
Wilson ′ s disease is a autosomal recessive inherited disease characteristic by metabolic disorder of copper. 肝豆状核变性是一种铜代谢障碍的常染色体隐性遗传病。
Hunter syndrome, known more formally as mucopolysaccharidosis type II or MPS II, is an extremely rare inherited enzyme disorder that occurs almost exclusively in males. 亨特氏综合症是二型粘多糖沉积病(MPSII),是一种极其罕见的遗传性酶紊乱疾病,发病者基本只有男性。
An inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated. 一种先天混乱症特征是骨头的密度增加。
Only later did she begin to display the symptoms of Huntington's Disease, an inherited brain disorder that produces horrific delusions and uncontrolled movements. 在此之后,她才开始显示出亨廷顿病的症状,这是一种会导致恐怖错觉和行动失控的遗传性脑疾。
Osteogenesis imperfecta is an inherited disorder of connective tissue, which affects the skeleton, ligament, skin, sclera, and dentin. 骨发生不全是一种遗传性的结缔组织病变,常侵犯骨骼、韧带、皮肤、角膜及牙齿。
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。
Epilepsy in dogs can be a primary, idiopathic, inherited disorder or secondary to previous head trauma or CNS infections. 犬癫痫病可以是原发性的、特发性的、遗传性的或继发性(由脑创伤或中枢神经系统感染等疾病引起)。
Citrullinemia is an autosomal recessive inherited defect resulted in the urea cycle disorder in Holstein Dairy cattle. 瓜氨酸血症(Citrullinemia)是荷斯坦牛尿素循环发生代谢紊乱的一种常染色体隐性遗传缺陷。
Roles of Non-Adherent Bone Marrow-Derived Stromal Cells in Haematopoietic Reconstitution and in Inherited Disorder Rectification 骨髓来源的非粘附基质干细胞在造血重建和遗传缺陷纠正中的作用
Haemophilia A is the most common inherited bleeding disorder in human, which is caused by deficiency in factor ⅷ( F ⅷ). 血友病甲是一种常见的遗传性出血性疾病,由因子FⅧ缺乏引起。
Waardenburg syndrome ( WS) is the most common autosomal dominant inherited disorder in syndromic hearing loss and is classified into four types ( WS1-4) depending on clinical features. Waardenburg综合症(Waardenburgsyndrome,WS)是最常见的常染色体显性遗传性综合征型耳聋,根据临床特征分为4型(WS1-4)。