The spectrum of CYP21A2 gene mutations in patients with 2l-hydroxylase deficiency-induced congenital adrenal hyperplasia in a Chinese cohort
Y Liu, J Zheng, X Xu, X Zhang, Y Zhang, G Li, G Liu… - 2020 - researchsquare.com
Abstract Background 21-hydroxylase deficiency (21-OHD) caused by the CYP21A2 gene
mutations is the most popular form of congenital adrenal hyperplasia. It is an autosomal …
mutations is the most popular form of congenital adrenal hyperplasia. It is an autosomal …
[PDF][PDF] PHÁT HIỆN ĐỘT BIẾN GEN CYP21A2 VÀ MỐI TƯƠNG QUAN GIỮA KIỂU GEN-KIỂU HÌNH CỦA BỆNH NHÂN TĂNG SẢN THƯỢNG THẬN BẨM SINH DO …
Tóm tắt 19 bệnh nhân TSTTBS do thiếu 21-hydroxylase được nghiên cứu phát hiện đột biến
gen CYP21A2 và đánh giá mối tương quan giữa kiểu gen-kiểu hình. Phương pháp nghiên …
gen CYP21A2 và đánh giá mối tương quan giữa kiểu gen-kiểu hình. Phương pháp nghiên …
[PDF][PDF] Charakterisierung der Entwicklung testikulärer adrenaler Resttumore im Tiermodell 21-Hydroxylase defizienter Mäuse
M Weniger - 2016 - edoc.ub.uni-muenchen.de
Das adrenogenitale Syndrom (AGS) ist eine der häufigsten autosomal-rezessiv vererbten
Stoffwechselerkrankungen. Das AGS beschreibt dabei eine Gruppe von Störungen der …
Stoffwechselerkrankungen. Das AGS beschreibt dabei eine Gruppe von Störungen der …
Corticosteroids in Pediatric Endocrinology
C Giannini, A Mohn - Systemic Corticosteroids for Inflammatory Disorders …, 2015 - Springer
Glucocorticoids are human steroid hormones secreted by the adrenal cortex that play a
critical role in several biologic processes. At “pharmacologic” or “stress-related” doses …
critical role in several biologic processes. At “pharmacologic” or “stress-related” doses …
[PDF][PDF] Diagnosis and Treatment of Congenital Adrenal Cortex Hyperplasia
X Hu, X Zhang - 2014 - pdf.hanspub.org
Congenital adrenal hyperplasia is a set of genetic disorders of adrenal cortex hyperplasia
caused by enzyme defect. This paper summarized the etiology, clinical manifestation …
caused by enzyme defect. This paper summarized the etiology, clinical manifestation …
[PDF][PDF] Cribado neonatal de hiperplasia suprarrenal congénita debida al déficit de 21-hidroxilasa: optimización, experiencia y factores perinatales influyentes
JI Labarta Aizpún, JF Escanero Marcén - 2015 - zaguan.unizar.es
HACEN CONSTAR: Que Dª Yolanda González Irazabal, Licenciada en Ciencias Químicas
por la Universidad de Oviedo y Licenciada en Bioquímica por la Universidad de Zaragoza …
por la Universidad de Oviedo y Licenciada en Bioquímica por la Universidad de Zaragoza …
[PDF][PDF] Comments to “A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency”
P Concolino, E Mello, A Rossodivita, B Giardina… - Gene, 2014 - academia.edu
We have read with great interest the paper by Coeli-Lacchini et al., A rational, non-
radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21 …
radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21 …
Comments to" a rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency"
FB Coeli-Lacchini, W Turatti, PCL Elias, LLK Elias… - Gene, 2014 - pubmed.ncbi.nlm.nih.gov
Comments to "a rational, non-radioactive strategy for the molecular diagnosis of congenital
adrenal hyperplasia due to 21-hydroxylase deficiency" Comments to "a rational, non-radioactive …
adrenal hyperplasia due to 21-hydroxylase deficiency" Comments to "a rational, non-radioactive …
[HTML][HTML] Hiperplasia suprarrenal congénita no clásica en pacientes infantojuveniles de ambos sexos
HR Boquete, M Azaretzky, A Belgorosky… - Revista argentina de …, 2013 - SciELO Argentina
La hiperplasia suprarrenal congénita no clásica (HSC-NC) por deficiencia de la enzima 21
hidroxilasa (P450c21) es la enfermedad genética autosómica recesiva más común, y puede …
hidroxilasa (P450c21) es la enfermedad genética autosómica recesiva más común, y puede …
HIPERPLASIA ADRENAL CONGÉNITA POR DEFICIENCIA DE 21 HIDROXILASA
JPH Dorado - Revista del Instituto Médico Sucre, 2012 - revistas.usfx.bo
Mutaciones en cualquiera de los genes que codifican las enzimas participantes en la
conversión de colesterol a cortisol, causan una esteroidogénesis defectuosa, determinando …
conversión de colesterol a cortisol, causan una esteroidogénesis defectuosa, determinando …