Clinical, Biochemical, and Genetic Characteristics of “Nonclassic” Apparent Mineralocorticoid Excess Syndrome
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Oxford University Press
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Abstract
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Classical apparent mineralocorticoid excess (AME) is a rare recessive disorder, caused by severe 11β-hydroxysteroid dehydrogenase type 2 enzyme (11β-HSD2) deficiency. AME manifests as low-ren...
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Centro de Genética y Genómica(CGG)
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Alejandra Tapia-Castillo, Rene Baudrand, Anand Vaidya, Carmen Campino, Fidel Allende, Carolina Valdivia, Andrea Vecchiola, Carlos F Lagos, Cristóbal A Fuentes, Sandra Solari, Alejandro Martínez-Aguayo, Hernán García, Cristian A Carvajal, Carlos E Fardella, Clinical, Biochemical, and Genetic Characteristics of “Nonclassic” Apparent Mineralocorticoid Excess Syndrome, The Journal of Clinical Endocrinology & Metabolism, Volume 104, Issue 2, February 2019, Pages 595–603, https://doi.org/10.1210/jc.2018-01197
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