17-alpha hydroxylase deficiency (17OHD) is an uncommon cause of congenital adrenal hyperplasia (CAH) resulting from mutation in the CYP17 gene. It is an autosomal recessive disease leading to the deficiency of enzyme activity which results in impaired synthesis of cortisol, androgen and sex ...
17-Hydroxylase-deficiency with unimpaired aldosterone formation in a male neonatePediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of diseases of children and disorders of development, extending from molecular biology to epidemiology. Use of model organisms and...
17 alpha-Hydroxylase deficiency with persistence of Mullerian ducts in a genotypic male and paradoxical aldosterone secretion. Postgrad Med J. 1993;69:159-... NS Panesar,VT Yeung,JC Chan,... - 《Postgraduate Medical Journal》 被引量: 3发表: 1993年 17x-Hydroxylase deficiency withpersistence of...
17-Alpha Hydroxylase Deficiency: A Rare Case of Primary Amenorrhea and Hypertension 机译:17-alpha羟化酶缺乏症:原发性闭经和高血压的罕见病例 著录项 作者 Yasin Şimşek; Seher Polat; Felix G. Riepe; Halit Diri; Fatih Tanrıverdi; Züleyha Karaca; Kürşad Ünlühızarcı; Paul-...
Curtius . (1987) Identification of new steroids in patients with 17α-hydroxylase deficiency by capillary gas chromatography/mass spectrometry. Biological Mass Spectrometry 14 :10.1002/bms.v14:11, 633-637 Online publication date: 1-Nov-1987. /...
Define 17alpha-hydroxylase. 17alpha-hydroxylase synonyms, 17alpha-hydroxylase pronunciation, 17alpha-hydroxylase translation, English dictionary definition of 17alpha-hydroxylase. n an enzyme useful in hydroxylation Collins English Dictionary – Complete
Objective To analyze the clinical and molecular genetic characteristics of a patient with 17α-hydroxylase/17,20 Lyase deficiency(17OHD). 目的通过对1例17α-羟化酶/17,20碳链裂解酶缺陷症(17OHD)患者的临床特点和基因突变研究,初步探讨17OHD临床表现的基因分子机制。补充...
Genotyping of five chinese patients with 17alpha-hydroxylase deficiency diagnosed through high-performance liquid chromatography serum adrenal profile: ide... Genotyping of five chinese patients with 17alpha- hydroxylase deficiency diagnosed through high- performance liquid chromatography serum adrenal profile:...
Although certain disorders of sexual differentiation predispose to gonadal neoplasia, the association of 17alpha hydroxylase deficiency and germ cell neoplasia has not been described and coincidence remains possible. 展开 年份: 2004 收藏 引用 批量引用 报错 分享 ...
17-Alpha Hydroxylase Deficiency: A Case SeriesTeresa M. ErbKelly GerschultzMelanie A. GoldJoseph S. Sanfilippo