Associated Papers
Population-based estimates of the global prevalence and carrier frequency of apparent mineralocorticoid excess caused by 11β-hydroxysteroid dehydrogenase type 2 deficiency.
Charoenngam N et al.
Orphanet Journal of Rare Diseases, 2025
Case report: Clinical characteristics and Genetical analysis of HSD11B2 in three Chinese children with apparent mineralocorticoid excess: a case series.
Ding Y et al.
Frontiers in Endocrinology, 2024
Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia.
Fan P et al.
Endocrine, 2020
Classic and Nonclassic Apparent Mineralocorticoid Excess Syndrome.
Carvajal CA et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency.
Yau M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Apparent Mineralocorticoid Excess by a Novel Mutation and Epigenetic Modulation by HSD11B2 Promoter Methylation.
Pizzolo F et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
Apparent mineralocorticoid excess syndrome: report of one family with three affected children.
Al-Harbi T et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012
The role of 11β-hydroxysteroid dehydrogenase type 2 in human hypertension.
Ferrari P
Biochimica Et Biophysica Acta, 2010
Apparent mineralocorticoid excess: report of six new cases and extensive personal experience.
Morineau G et al.
Journal of the American Society of Nephrology : Jasn, 2006
Apparent mineralocorticoid excess syndrome: an overview.
Palermo M et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population.
Quinkler M et al.
Molecular and Cellular Endocrinology, 2004
Hypertension and the cortisol-cortisone shuttle.
Quinkler M et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess.
Zahraldin K et al.
Annals of Thoracic Medicine, 0