1) desmolase
碳链（裂解）酶
2) desmolase
碳链裂解酶
3) 17α-hydroxylase/17,20-lyase
17α-羟化酶/17,20碳链裂解酶
1.
Background 17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia leading to hypokalemic, hypertension and sexual abnormalities such as pseudohermaphroditism in males, and sexual infantilism in females.
17α-羟化酶/17,20碳链裂解酶缺乏症是先天性肾上腺皮质增生症中少见的类型,主要表现为低血钾、高血压及性发育障碍,在男性表现为假两性畸形或外阴女性化,而在女性则表现为第二性征发育障碍。
4) 17-hydroxylation deficiency
17α-羟化酶/17,20碳链裂解酶缺陷症
1.
Objective To analyze molecular genetic characteristics of two Chinese patients with 17-hydroxylation deficiency.
目的从分子遗传学方面初步探讨两例17α-羟化酶/17,20碳链裂解酶缺陷症(17OHD)患者的突变性质。
5) 17α hydroxylase/17,20 lyase deficiency
17α羟化酶/17,20碳链裂解酶缺陷症
1.
Objective To analyze the clinical and genetic characteristics of 10 Chinese patients with 17α hydroxylase/17,20 lyase deficiency (17OHD).
目的回顾10例17α羟化酶/17,20碳链裂解酶缺陷症(17OHD)患者的资料,分析17OHD的临床特征和分子遗传学特点。
2.
17α hydroxylase/17,20 lyase deficiency (17OHD) is a rare autosomal recessive disorder, characterized by severe hypertension,hypokalemia,sexual infantilism in female, primary amenorrhea, and pseudo hermaphroditism in male.
17α羟化酶/17,20碳链裂解酶缺陷症(17OHD)是先天性肾上腺增生的少见类型。
6) P450c17 enzyme
17α-羟化酶/17,20-碳链裂解酶缺陷症
参考词条
补充资料：碳链裂解酶
分子式：
CAS号：
性质：是由混合功能氧化酶和细胞色素P450组成的酶复合体，它催化除去胆固醇侧链的反应。胆固醇因而变成孕(甾)烯醇酮，是甾类激素的前体。
CAS号：
性质：是由混合功能氧化酶和细胞色素P450组成的酶复合体，它催化除去胆固醇侧链的反应。胆固醇因而变成孕(甾)烯醇酮，是甾类激素的前体。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。