根据《人体基因序列变化及其疾病表征》,3β-羟基类固醇脱氢酶缺陷症基因解码基因检测是采用超越数据库比对技术,对英文疾病名称为3-beta-hydroxysteroid dehydrogenase deficiency的疾病所进行的基于DNA序列变化而进行的临床医学基因检测。该病的其他英文名称包括:3 beta-HSD deficiency 3 beta-ol dehydrogenase deficiency、3-...
根据《人体基因序列变化及其疾病表征》,3β-羟基类固醇脱氢酶缺陷症基因解码基因检测是采用超越数据库比对技术,对英文疾病名称为3-beta-hydroxysteroid dehydrogenase deficiency的疾病所进行的基于DNA序列变化而进行的临床医学基因检测。该病的其他英文名称包括:3 beta-HSD deficiency 3 beta-ol dehydrogenase deficiency、3-...
3β-HSD 缺乏症的英文名字是3 beta-HSD deficiency。基因解码表明:3 β-HSD 缺乏症是一种遗传性疾病,与3β-HSD基因的突变有关。 3β-HSD是一种酶,它在胆固醇合成途径中起着重要作用。它参与合成肾上腺皮质激素、性激素和胆固醇等物质。3 β-HSD 缺乏症是由于3β-HSD基因突变导致该酶功能异常或缺失,从而影响...
根据《人体基因序列变化及其疾病表征》,3β-羟基类固醇脱氢酶缺陷症基因解码基因检测是采用超越数据库比对技术,对英文疾病名称为3-beta-hydroxysteroid dehydrogenase deficiency的疾病所进行的基于DNA序列变化而进行的临床医学基因检测。该病的其他英文名称包括:3 beta-HSD deficiency 3 beta-ol dehydrogenase deficiency、3-...
Classical 3β-hydroxysteroid dehydrogenase/Δ5-Δ/) isomerase (3β-HSD) deficiency is an autosomal recessive form of congenital adrenal hyperplasia (CAH). In contrast to CAH due to 21-hydroxylase and 11β-hydroxylase deficiencies, which impair steroid formation in the adrenal cortex exclusively, ...
The glucocorticoid-activating enzyme 11beta-hydroxysteroid dehydrogenase type 1 has broad substrate specificity: Physiological and toxicological considerat... The primary function of 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) is to catalyze the conversion of inactive to active glucocorticoid hormo...
22-desmolase/steroidogenic acute regulatory protein (20,22D/StAR) deficiency (6.1%), and 3beta-hydroxysteroid dehydrogenase (3beta-HSD) deficiency (4.5%)... Somchit,Jaruratanasirikul,Therdpong,... - Journal of the Medical Association of Thailand = Chotmaihet thangphaet 被引量: 7发表: 2013...
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M0151 3α羟基类固醇脱氢酶/羟基甾族化合物氧化还原酶/羟固醇/HSD BR,50u/mg 500U 国药 1400 9028-56-2 保存:-20℃ 1KU 国药 2500 M0152 肌氨酸氧化酶/SAO/Sarcosine Oxidase BR,5-10u/mg 100U 国药 5000 9029-22-5 保存:-20℃ 1KU 国药 9000 M0153 肌酐酶/CAH/Creatininase amidohydrolase BR...