1) CYP21 gene
21-羟化酶
2) 21-hydroxylase deficiency
21-羟化酶缺失
3) 21-hydroxylase deficiency
21-羟化酶缺乏症
1.
Genotype and clinical characteristics of Chinese patients with nonclassical steroid 21-hydroxylase deficiency;
非经典型21-羟化酶缺乏症基因型和临床特征
2.
The major cause of CAH is 21-hydroxylase deficiency (21-OHD), which accounts for 90%~95% of all cases in most populations.
目的: 21-羟化酶缺乏症(21-hydroxylase deficiency,21-OHD)是先天性肾上腺皮质增生症(congenital adrenal hyperplasia,CAH)中最常见的一种类型,属于常染色体隐性遗传性疾病。
4) 21 hydroxylase deficiency
21羟化酶缺陷症
1.
Objective Clinical data of 19 Chinese patients with 21 hydroxylase deficiency (21OHD) were analyzed to improve the diagnosis and treatment level.
目的分析19例21羟化酶缺陷症(21OHD)患者的临床和随访资料,提高该病的诊断和治疗水平。
5) hydroxylase deficiency
21-羟化酶缺陷症
1.
Screening 21-hydroxylase deficiency carriers in androgen excess women of Chinese Han nationality;
中国汉族雄激素过多症女性21-羟化酶缺陷症携带者基因检测
6) 21-hydroxylase deficiency
21-羟化酶缺乏
1.
Objective To evaluate the diagnosis and treatment of female pseudohermaphroditism caused by 21-hydroxylase deficiency.
目的探讨21-羟化酶缺乏(21-hydroxylasedeficiency,21-OHD)致女性假两性畸形的临床诊断及治疗方法。
参考词条
补充资料:21-羟化酶缺陷
21-羟化酶缺陷
表现为失盐型,因盐皮质激素的合成受阻而肾脏无法保钠,出现低钠血症,表现为纳差、严重呕吐、脱水,以致威胁生命。
说明:补充资料仅用于学习参考,请勿用于其它任何用途。