21-羟化酶缺乏症(21-hydroxylase deficiency,21-OHD)是先天性肾上腺皮质增生症(CAH)的最常见类型,为编码21-羟化酶的 CYP21A2基因突变导致的常染色体隐性遗传病。由于21-羟化酶存在缺陷,导致皮质醇和醛固酮的合成不足或缺乏,ACTH代偿性分泌增加,引起肾上腺皮质增生及雄激素合成增多。患者临床上出现肾上腺皮质功能不全...
Senard JM, Rouet P (2006) Dopamine beta-hydroxylase deficiency. Orphanet J Rare Dis 1: 7.Senard JM, Rouet P (2006) Dopamine beta-hydroxylase deficiency. Orphanet J Rare Dis 1:7 CentralSenard JM, Rouet P. Dopamine beta-hydroxylase deficiency. Orphanet J Rare Dis 2006;1:7....
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 ...
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>> 3) hydroxylase deficiency 21羟化酶缺乏症 例句>> 4) nonclassic 21-hydroxylase deficiency(NCAH) ...
21-hydroxylasedeficiency.21-羟化酶缺乏 39weeks'gestation妊娠39周 5-Fluorouracil:5-氟脲密啶 5-hydroxyindoleaceticacid5-羟吲哚乙酸 5'-nucleotidase5-核苷酶 abdominalbloating,腹胀 abdominalbruit腹部青紫 abdominalcircumference(AG),腹围 abdominalcolic腹绞痛 abdominalcramps腹绞痛 abdominaldistention腹胀 abdominalgir...
网络苯丙氨酸羟化酶缺乏症 网络释义 1. 苯丙氨酸羟化酶缺乏症 ...尿症(phenylketonuria,PKU)或称苯丙氨酸羟化酶缺乏症(phenylalanine hydroxylase deficiency)是由于肝脏苯丙氨酸羟 … www.wiki8.com|基于7个网页
Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the essential amino acid phenylalanine. It occurs in approximately 1:15,000 individuals. Deficiency of this enzyme produces a spectrum of disorders including classic phenylketonuria, ...
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...
We determined the sequence of a mutant CYP21B gene isolated from a patient with the severe, "salt-wasting" form of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Codon 318 in this gene is changed from CAG, encoding glutamine, to
Earlier work (2) had located the gene responsible for 21-hydroxylase deficiency to lie between locus A and the GLO locus. CONCLUSION: The present results narrow the locus of the 21-hydroxylase deficiency gene to between the A and DR loci of the major histocompatibility region on chromosome 6....