2019罕见病诊疗指南—21-羟化酶缺乏症概述21-羟化酶缺乏症(21-hydroxylasedeficiency,21-OHD) 是先天性肾上腺增生症(congenitaladrenalhyperplasia,CAH)中最常见的类型,是由于编码21-羟化酶的CYP21A2基因缺陷导致肾上腺皮质类固醇激素合成障碍的一种先天性疾病,呈常染色体隐性遗传。经典型患者可发生肾上腺危象,导致生命危险...
21-Hydroxylase deficiency in Italy: a distinct distribution pattern of CYP21 mutations in a sample from southern Italy. J Med Genet 1999, 36: 648–50. CentralBobba A, Marra E, Giannattasio S, Iolascon A, Monno F, Di Maio S 1999 21-Hydroxylase deficiency in Italy: a distinct distribution...
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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。 3)21-hydroxylase deficiency21-羟化酶缺乏症 1.Genotype and clinical...
Genotypeandclinicalcharacteristicsof Chinese patients withnonclassicalsteroid21-hydroxylasedeficiency 非经典型21-羟化酶缺乏症基因型和临床特征 www.ilib.cn 2. Comparisonofphenotypeandgenotypedistributionamongthreetypesof Chinese patients with21-hydroxylasedeficiency ...
21-hydroxylase deficiency: screening and incidence in Israel. Horm Res 48: 115-119.Sack J, Front H, Kaiserman I, Schreiber M. 21-Hydroxylase deficiency: screening and incidence in Israel. Horm Res. 1997; 48:115-9.Sack J, Front H, Kaiserman I, Schreiber M. 1997. 21- Hydroxylase ...
Pediatric Clinics of North America - Vol. 58 - N° 5 - p. 1281-1300 - Steroid 21 Hydroxylase Deficiency Congenital Adrenal Hyperplasia - EM consulte
Late onset 21-hydroxylase deficiency presenting as pre-pubertal gynaecomastiaPediatric 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 ...
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。更多例句>> 2) hydroxylase deficiency 21羟化酶缺乏症 例句>> 3) 21-hydroxylase deficiency 21-羟化酶缺乏 1. Objective To evaluate ...
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。