Apparent Mineralocorticoid Excess Caused by a Novel Mutation in 11-β Hydroxysteroid Dehydrogenase type 2 Enzyme: its Genetics and Response to Therapy

Human hypertension caused by mutations in the kidney isozyme of 11β–hydroxysteroid dehydrogenase

Tomoatsu Mune, Fraser M. Rogerson, Heli Nikkilä et al. · Nature Genetics · 1995 · 626 citations

Medicine, Genetics, Molecular Genetics +15

A Syndrome of Apparent Mineralocorticoid Excess Associated with Defects in the Peripheral Metabolism of Cortisol*

Stanley Ulick, T Kodama, PETER GUNCZIER et al. · The Journal of Clinical Endocrinology & Metabolism · 1979 · 496 citations

Life Sciences, Endocrinology, Physiology +13

<b>Urinary free cortisone and the assessment of 11β‐hydroxysteroid dehydrogenase activity in man</b>

Mario Palermo, Cedric Shackleton, Franco Mantero et al. · Clinical Endocrinology · 1996 · 273 citations

Life Sciences, Endocrinology, Mineral Metabolism +16

A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.

Robert C. Wilson, Zygmunt S. Krozowski, K. Li et al. · The Journal of Clinical Endocrinology & Metabolism · 1995 · 198 citations

Life Sciences, Genetics, Molecular Genetics +12

Evidence for an Unidentified Steroid in a Child with Apparent Mineralocorticoid Hypertension

Maria I. New, Lenore S. Levine, Edward G. Biglieri et al. · The Journal of Clinical Endocrinology & Metabolism · 1977 · 198 citations

Medicine, Endocrinology, Pediatrics +17