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
Diagnosing apparent mineralocorticoid excess in a child with hypertension and nephrocalcinosis: from symptoms to genetics.
Vallabhaneni P et al.
Cen Case Reports, 2025
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort
Apparent mineralocorticoid excess: comprehensive overview of molecular genetics.
Lu YT et al.
Journal of Translational Medicine, 2022
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
Classic and Nonclassic Apparent Mineralocorticoid Excess Syndrome.
Carvajal CA et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Serum Cortisol and Cortisone as Potential Biomarkers of Partial 11β-Hydroxysteroid Dehydrogenase Type 2 Deficiency.
Carvajal CA et al.
American Journal of Hypertension, 2018
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
Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.
Carvajal CA et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
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