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1)  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。
2)  21-hydroxylase deficiency
21-羟化酶缺陷症
1.
Right adrenal "tumor-like" hyperplasia in an adult with 21-hydroxylase deficiency—a case report.
21-羟化酶缺陷症伴右肾上腺“瘤样”增生1例
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)  hydroxylase deficiency
21羟化酶缺乏症
5)  11 beta-hydroxylase deficiency
11β-羟化酶缺陷症
1.
Clinical characteristics and treatment of 11 beta-hydroxylase deficiency-report of 9 cases and literature review;
11β-羟化酶缺陷症9例临床特征与治疗分析
6)  17α-Hydroxylase Deficiency
17α-羟化酶缺陷症
1.
Clinical Analysis for 9 Patients with 17α-Hydroxylase Deficiency;
17α-羟化酶缺陷症的九例临床分析
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。
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