A genetic epidemiology study of congenital adrenal hyperplasia in Italy
A Gialluisi, S Menabò, L Baldazzi, L Casula… - Clinical …, 2018 - Wiley Online Library
Congenital adrenal hyperplasia due to 21‐hydroxylase deficiency (21OHD‐CAH) is an
autosomal recessive disorder affecting steroidogenesis, due to mutations in CYP21A2 …
autosomal recessive disorder affecting steroidogenesis, due to mutations in CYP21A2 …
Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review
G Bertolucci, N Tyutyusheva, M Sepich, F Baldinotti… - Sexes, 2023 - mdpi.com
Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal recessive
disorders due to defects in adrenal steroid biosynthesis. In about 90% of patients, CAH is …
disorders due to defects in adrenal steroid biosynthesis. In about 90% of patients, CAH is …
[HTML][HTML] Congenital adrenal hyperplasia: diagnosis and emergency treatment
M Yau, J Gujral, MI New - 2015 - europepmc.org
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that
arise from defective steroidogenesis. The production of cortisol in the zona fasciculata of the …
arise from defective steroidogenesis. The production of cortisol in the zona fasciculata of the …
Molecular testing in congenital adrenal hyperplasia due to 21α‐hydroxylase deficiency in the era of newborn screening
K Sarafoglou, CP Lorentz, N Otten, WS Oetting… - Clinical …, 2012 - Wiley Online Library
Sarafoglou K, Lorentz CP, Otten N, Oetting WS, Grebe SKG. Molecular testing in congenital
adrenal hyperplasia due to 21α‐hydroxylase deficiency in the era of newborn screening …
adrenal hyperplasia due to 21α‐hydroxylase deficiency in the era of newborn screening …
Analysis of phenotypes and genotypes in 84 patients with 21-Hydroxylase deficiency in southern China
L Hou, L Liang, S Lin, H Ou, Z Liu, S Huang, L Zhang… - Steroids, 2019 - Elsevier
Abstract Objective 21-hydroxylase deficiency (21-OHD) caused by mutation in CYP21A2
gene is the most common form of Congenital adrenal hyperplasia (CAH). This study aimed …
gene is the most common form of Congenital adrenal hyperplasia (CAH). This study aimed …
新生儿先天性肾上腺皮质增生症筛查诊断实验方法学发展
简永建， 潘迎 - 中国儿童保健杂志, 2014 - cqvip.com
本文对国内外新生儿先天性肾上腺皮质增生症筛查及诊断中使用的放射免疫法, 酶联免疫法,
时间分辨荧光分析法, 高效液相色谱法, 质谱法及基因诊断等实验方法, 分别从技术发展历史 …
时间分辨荧光分析法, 高效液相色谱法, 质谱法及基因诊断等实验方法, 分别从技术发展历史 …
21-羟化酶缺陷症基因诊断方法的建立及应用
马定远， 孙云， 陈玉林， 杨冰， 成建， 黄美莲， 张瑾… - 中华医学遗传学 …, 2013 - cqvip.com
目的建立21-羟化酶缺陷症的基因诊断方法并评价其临床应用价值. 方法收集9
例肾上腺皮质增生症患儿血样, 采用全长基因直接测序法分析21-羟化酶编码基因CYP21A2 …
例肾上腺皮质增生症患儿血样, 采用全长基因直接测序法分析21-羟化酶编码基因CYP21A2 …
Genetics of adrenocortical disease: an update
A Bar-Lev, JP Annes - Current Opinion in Endocrinology …, 2012 - journals.lww.com
Genetics of adrenocortical disease: an update : Current Opinion in Endocrinology, Diabetes
and Obesity Genetics of adrenocortical disease: an update : Current Opinion in …
and Obesity Genetics of adrenocortical disease: an update : Current Opinion in …
CYP21A2 p. E238 deletion as result of multiple microconversion events: a genetic study on an Italian congenital adrenal hyperplasia (CAH) family
P Concolino, E Mello, C Zuppi, V Toscano… - Diagnostic Molecular …, 2013 - journals.lww.com
More than 90% of congenital adrenal hyperplasia (CAH) cases are associated with
mutations in the 21-hydroxylase gene (CYP21A2) in the HLA class III area on the short arm …
mutations in the 21-hydroxylase gene (CYP21A2) in the HLA class III area on the short arm …
21-羟化酶缺乏症的分子诊断及临床意义
吕拥芬， 李嫔 - 上海交通大学学报(医学版), 2022 - xuebao.shsmu.edu.cn
21-羟化酶缺乏症是先天性肾上腺皮质增生症最常见的类型. 目前的诊断主要依据临床症状和
实验室检测, 容易发生误诊或漏诊且无法对患者的基因型进行分析. 进行CYP21A2 …
实验室检测, 容易发生误诊或漏诊且无法对患者的基因型进行分析. 进行CYP21A2 …