Results 81 to 90 of about 4,066 (184)
Ожирение и метаболизмA corrigendum on "A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal Hyperplasia" by Axenia S. Bondarenko, Elizaveta O. Mamedova, Zhanna E. Belaya, Galina A. Melnichenko (2024). Obesity and metabolism. 2024;21(1)
A. S. Bondarenko +3 more
doaj +1 more source
Diagnosis of mutations in the CYP21A2 gene
Endocrine Surgery.
E. S. Podshivalova +3 more
semanticscholar +1 more source
Physiological Reports, Volume 13, Issue 6, March 2025.Abstract We queried whether adrenal insufficiency attributable to non‐classic congenital adrenal hyperplasia (21 hydroxylase deficiency, 21OHD) might contribute to heat illness susceptibility. Patients referred to a specialist heat illness clinic (n = 2 with prior hyponatremia; n = 16 lacking documentary evidence) and controls (n = 16) underwent ...
Michael J. Stacey +7 more
wiley +1 more source
Hiperplasia Congénita da Suprarrenal por Deficiência de 21-Hidroxílase: Correlação Genótipo-Fenótipo
Acta Médica Portuguesa, 2015 Introdução: A hiperplasia congénita da suprarrenal por deficiência de 21-hidroxílase constitui uma das doenças hereditárias mais comuns. Resulta de diferentes mutações no gene CYP21A2 e, na maioria dos casos, a gravidade da doença correlaciona-se com a ...
Catarina Mendes +5 more
doaj +1 more source
Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population
Molecular Genetics &Genomic Medicine, Volume 13, Issue 1, January 2025.ABSTRACT Background The use of exome sequencing (ES) has helped in detecting many variants and genes that cause primary adrenal insufficiency (PAI). The diagnosis of PAI is difficult and can be life‐threatening if not treated urgently. Consanguinity can impact the detection of recessively inherited genes.
Mohamed H. Al‐Hamed +8 more
wiley +1 more source
Advances in Pharmacological and Pharmaceutical Sciences, Volume 2025, Issue 1, 2025.A simple and efficient validated assay for quantifying 21‐deoxycortisol (21‐DOC), 17‐hydroxyprogesterone (17‐OHP), cortisol, and cortisone in human plasma has been developed using ultra‐high performance liquid chromatography coupled with tandem mass spectrometry (UHPLC‐MS/MS).
Syed N. Alvi +3 more
wiley +1 more source
Advances in Pharmacological and Pharmaceutical Sciences, Volume 2025, Issue 1, 2025.Epidemiological studies identify risk factors for Alzheimer’s disease (AD), which induces oxidative stress and inflammation. Pharmaceuticals aimed against the nuclear receptor PPARγ, including TZDs, have been associated with considerable negative consequences in AD treatment.
Tassanee Ongtanasup +4 more
wiley +1 more source
Establishment of Clinical and Lab Algorithms for the Identification of Carriers of Mutations in CYP21A2 – A Study of 365 Children and Adolescents [PDF]
, 2020 Jakob Meinel +4 more
openalex +1 more source
Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations [PDF]
, 2021 Mayara Jorgens Prado +9 more
openalex +1 more source