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apparent mineralocorticoid excess - inherited disorder resulting in high blood pressure
Definition for apparent mineralocorticoid excess
Apparent mineralocorticoid excess is an autosomal recessive cause of hypertension and hypokalaemia which responds to glucocorticoid treatment.
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Apparent mineralocorticoid excess is an autosomal recessive cause of hypertension and hypokalaemia which responds to glucocorticoid treatment. It results from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11ß-hydroxysteroid dehydrogenase.
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some common symptoms
high blood pressure
muscle cramps
some related diagnoses
1 - 7 of
45
diagnoses
atherosclerosis
diabetes mellitus type 2
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ischemic foot
vertebrobasilar insufficiency syndrome
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do i have 'apparent mineralocorticoid excess'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'apparent mineralocorticoid excess'
1 - 5 of
8
diagnostic tests
Plasma renin activity (PRA)
apparent mineralocorticoid excess and Plasma renin activity (PRA)
Serum Aldosterone
apparent mineralocorticoid excess and Serum Aldosterone
ratio of serum cortisol to cortisone
apparent mineralocorticoid excess and ratio of serum cortisol to cortisone
urinary ratio of tetrahydrocortisol/tetrahydrocortisone (THF/THE)
apparent mineralocorticoid excess and urinary ratio of tetrahydrocortisol/tetrahydrocortisone (THF/THE)
Complete metabolic panel
apparent mineralocorticoid excess and Complete metabolic panel
Molecular Genetic Studies
apparent mineralocorticoid excess and Molecular Genetic Studies
serum electrolytes
apparent mineralocorticoid excess and serum electrolytes
urine output
apparent mineralocorticoid excess and urine output
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therapeutic procedures for 'apparent mineralocorticoid excess'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for apparent mineralocorticoid excess:
therapeutic procedure search results for 'apparent mineralocorticoid excess'
rankings are computer generated. please consult your health care provider.
medications search results for 'apparent mineralocorticoid excess'
rankings are computer generated. please consult your health care provider.
web search results for apparent mineralocorticoid excess
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- apparent mineralocorticoid excess
Apparent mineralocorticoid excess syndrome - Wikipedia, the free ...
Apparent mineralocorticoid excess (AME) is an autosomal recessive cause of ... Apparent mineralocorticoid excess at NIH's Office of Rare Diseases ...
http://en.wikipedia.org/wiki/Apparent_mineralocorticoid_excess_syndrome
en.wikipedia.org
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summary
Orphanet: Apparent mineralocorticoid excess
The portal for rare diseases and orphan drugs ... Apparent mineralocorticoid excess. Orpha number. ORPHA320. Prevalence of rare diseases ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=320
www.orpha.net
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summary
Genetic, biochemical, and clinical studies of patients with A328V or ...
Apparent mineralocorticoid excess is a recessively inherited hypertensive ... in 2 families with severe, apparent mineralocorticoid excess and other family ...
http://www.ncbi.nlm.nih.gov/pubmed/10489390
www.ncbi.nlm.nih.gov
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summary
Talk:Apparent mineralocorticoid excess syndrome - Wikipedia, the free ...
Talk:Apparent mineralocorticoid excess syndrome. From Wikipedia, the free encyclopedia (Redirected from Talk:Apparent mineralocorticoid excess) Jump to: ...
http://en.wikipedia.org/wiki/Talk:Apparent_mineralocorticoid_excess
en.wikipedia.org
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Hypertension and the cortisol-cortisone shuttle.
... syndrome of apparent mineralocorticoid excess, in which cortisol induces ... clinical picture to apparent mineralocorticoid excess occurs after the ingestion ...
http://www.ncbi.nlm.nih.gov/pubmed/12788832
www.ncbi.nlm.nih.gov
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summary
11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent ...
11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. ... This deficiency allows mineralocorticoid receptors to be ...
http://www.ncbi.nlm.nih.gov/pubmed/9034789
www.ncbi.nlm.nih.gov
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summary
Examination of genotype and phenotype relationships in 14 patients with ...
... phenotype relationships in 14 patients with apparent mineralocorticoid excess. ... Apparent mineralocorticoid excess (AME) is a genetic disorder causing pre- and ...
http://www.ncbi.nlm.nih.gov/pubmed/9661590
www.ncbi.nlm.nih.gov
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summary
Molecular basis for hypertension in the "type II variant" of apparent ...
... hypertension in the "type II variant" of apparent mineralocorticoid excess. ... The syndrome of apparent mineralocorticoid excess (AME) is a heritable form of ...
http://www.ncbi.nlm.nih.gov/pubmed/9683587
www.ncbi.nlm.nih.gov
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New Medical Subject Headings by Subcategory
Mineralocorticoid Excess Syndrome, Apparent. Persistent Hyperinsulinemia Hypoglycemia of Infancy ... Mineralocorticoid Excess Syndrome, Apparent. Overnutrition ...
http://www.nlm.nih.gov/mesh/newbysub2004.html
www.nlm.nih.gov
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Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial ...
... and biochemical phenotype in apparent mineralocorticoid excess. ... apparent mineralocorticoid excess, an autosomal recessive form of familial hypertension. ...
http://www.ncbi.nlm.nih.gov/pubmed/10523339
www.ncbi.nlm.nih.gov
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summary
The role of the 11beta-hydroxysteroid dehydrogenase type 2 in human ...
... of apparent mineralocorticoid excess (AME), result in a compromised 11 betaHSD2 ... have overt signs of mineralocorticoid excess, but nevertheless show a positive ...
http://www.ncbi.nlm.nih.gov/pubmed/10726708?ordinalpos=1&ito...
www.ncbi.nlm.nih.gov
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summary
Several homozygous mutations in the gene for 11 beta-hydroxysteroid ...
... dehydrogenase type 2 in patients with apparent mineralocorticoid excess. ... members affected by apparent mineralocorticoid excess, this disorder is shown ...
http://www.ncbi.nlm.nih.gov/pubmed/7593417
www.ncbi.nlm.nih.gov
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A mutation in the HSD11B2 gene in a family with apparent ...
A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. ... family with three sibs suffering from Apparent Mineralocorticoid Excess (AME) ...
http://www.ncbi.nlm.nih.gov/pubmed/7608290
www.ncbi.nlm.nih.gov
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summary
Glucocorticoid and mineralocorticoid receptors: biology and clinical ...
Mineralocorticoid and glucocorticoid receptors act as homodimers via canonical ... mutations in all cases of apparent mineralocorticoid excess examined to date. ...
http://www.ncbi.nlm.nih.gov/pubmed/9046958
www.ncbi.nlm.nih.gov
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summary
A new compound heterozygous mutation in the 11 beta-hydroxysteroid ...
... dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. ... Apparent mineralocorticoid excess (AME) characterized by early-onset ...
http://www.ncbi.nlm.nih.gov/pubmed/9398712
www.ncbi.nlm.nih.gov
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summary
New Medical Subject Headings
11-beta-Hydroxysteroid Dehydrogenase Type 1. 11-beta-Hydroxysteroid ... Mineralocorticoid Excess Syndrome, Apparent. Molecular Mechanisms of Action. Monkeypox ...
http://www.nlm.nih.gov/mesh/newd2004.html
www.nlm.nih.gov
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Hypertension Glossary
... hypertension ? Diuretics act on the kidneys to remove excess salt from the blood. ... that does not have an apparent cause ? The vast majority (95 percent) ...
http://my.clevelandclinic.org/disorders/hypertension_high_bl...
my.clevelandclinic.org
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summary
Renal Tubular Acidosis (RTA): Abnormal Renal Transport Syndromes: Merck ...
However, excess HCO3 replacement increases KHCO3 losses in the urine. ... A few patients need mineralocorticoid replacement therapy ( fludrocortisone Some ...
http://www.merck.com/mmpe/sec17/ch237/ch237f.html
www.merck.com
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summary
A mutation in the cofactor-binding domain of 11beta-hydroxysteroid ...
... inactivation of cortisol to cortisone in mineralocorticoid target tissues. ... 11betaHSD2 cause the syndrome of apparent mineralocorticoid excess (AME), an ...
http://www.ncbi.nlm.nih.gov/pubmed/11238516
www.ncbi.nlm.nih.gov
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summary
A switch in the mechanism of hypertension in the syndrome of apparent ...
A switch in the mechanism of hypertension in the syndrome of apparent mineralocorticoid excess. ... Bailey MA, Paterson JM, Hadoke PW, Wrobel N, Bellamy CO, ...
http://www.ncbi.nlm.nih.gov/pubmed/18032795?ordinalpos=1&ito...
www.ncbi.nlm.nih.gov
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summary
2008 MeSH Tree Structures. C16 - Congenital, Hereditary, and Neonatal ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] ... Mineralocorticoid Excess Syndrome, Apparent [C16.320.565.925.500] ...
http://www.nlm.nih.gov/mesh/trees2008/C16.html
www.nlm.nih.gov
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Mineralocorticoid activity of liquorice: 11-beta-hydroxysteroid ...
... liquorice ingestion has been thought to be due to a direct mineralocorticoid ... of this enzyme produces a syndrome of apparent mineralocorticoid excess. ...
http://www.ncbi.nlm.nih.gov/pubmed/2889032
www.ncbi.nlm.nih.gov
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summary
Human hypertension caused by mutations in the kidney isozyme of 11 beta ...
The syndrome of apparent mineralocorticoid excess (AME) is an inherited form of ... Mineralocorticoids. Hydroxysteroid Dehydrogenases. 11-beta-Hydroxysteroid ...
http://www.ncbi.nlm.nih.gov/pubmed/7670488
www.ncbi.nlm.nih.gov
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summary
2008 MeSH Tree Structures. C18 - Nutritional and Metabolic Diseases
Home > Library Catalogs and Services > MeSH. MeSH Tree Structures - 2008 ... Mineralocorticoid Excess Syndrome, Apparent [C18.452.648.925.500] ...
http://www.nlm.nih.gov/mesh/trees2008/C18.html
www.nlm.nih.gov
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MIM Gene map
The OMIM Gene map presents the cytogenetic map location of ... Apparent mineralocorticoid excess, hypertension due to (3);Hypertension, mild low-renin (3) ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l218030
www.ncbi.nlm.nih.gov
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MIM Morbid map
Apparent mineralocorticoid excess, hypertension due to (3) HSD11B2, HSD11K. 218030 ... Aromatase excess syndrome, 139300 (3) CYP19A1, CYP19, ARO. 107910. 15q21.1 ...
http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=256
www.ncbi.nlm.nih.gov
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summary
Cloning and expression of rat cDNA encoding corticosteroid 11 beta ...
Corticosteroid 11 beta-dehydrogenase (11-DH) catalyzes the conversion of ... fatal form of childhood hypertension termed apparent mineralocorticoid excess. ...
http://www.ncbi.nlm.nih.gov/pubmed/2808402
www.ncbi.nlm.nih.gov
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summary
Corticosteroid 11-beta-dehydrogenase isozyme 2 - Wikipedia, the free ...
... 2 in patients with apparent mineralocorticoid excess.". J. Clin. ... for hypertension in the "type II variant" of apparent mineralocorticoid excess.". Am. ...
http://en.wikipedia.org/wiki/Corticosteroid_11-beta-dehydrogenase_isozyme_2
en.wikipedia.org
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summary
A new polymorphic restriction site in the human 11 beta-hydroxysteroid ...
... HSD11B2 gene have been found to cause the syndrome of apparent mineralocorticoid excess, a rare autosomal recessive disease characterized by severe hypertension. ...
http://www.ncbi.nlm.nih.gov/pubmed/9589699?ordinalpos=1&itoo...
www.ncbi.nlm.nih.gov
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summary
A genetic defect resulting in mild low-renin hypertension.
Apparent mineralocorticoid excess (AME) is a genetic disorder that results in ... Mineralocorticoids. Hydrocortisone. Cortisone. Hydroxysteroid Dehydrogenases ...
http://www.ncbi.nlm.nih.gov/pubmed/9707624
www.ncbi.nlm.nih.gov
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summary
Renal Tubular Acidosis (RTA): Abnormal Renal Transport Syndromes: Merck ...
However, signs of chronic electrolyte abnormalities may become apparent. ... However, excess HCO3 replacement increases KHCO3 losses in the urine. ...
http://www.merck.com/mmpe/print/sec17/ch237/ch237f.html
www.merck.com
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summary
Cortisol metabolism in hypertension.
Mineralocorticoid Excess Syndrome, Apparent/diagnosis ... Mineralocorticoid Excess Syndrome, Apparent/genetics. Models, Biological. Substances: ...
http://www.ncbi.nlm.nih.gov/pubmed/16980198
www.ncbi.nlm.nih.gov
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summary
AME - Wikipedia, the free encyclopedia
Apparent Metabolizable Energy. Apparent mineralocorticoid excess syndrome ... Atelier Mécanique de Mulhouse a french armament R&D facility in charge of light ...
http://en.wikipedia.org/wiki/AME
en.wikipedia.org
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AceView: Gene:HSD11B2, a comprehensive annotation of human, mouse and ...
... to diseases (Adenocarcinoma; Adenoma; Adrenal Gland Neoplasms; Apparent mineralocorticoid excess, hypertension due to; Arthritis, Rheumatoid; Breast ...
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=h...
www.ncbi.nlm.nih.gov
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summary
218030
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030
www.ncbi.nlm.nih.gov
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Avril 2006 ...
Hits Mots-clés -469 1.08% adrenoleucodistrofia 436 1.00% orphanet 427 0.98 ... 5 0.01% apert 5 0.01% aphte 5 0.01% apparent mineralocorticoid excess 5 ...
http://www.orpha.net/stat/orphanet/search_200604.html
www.orpha.net
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summary
Hyper- and hypoaldosteronism.
... deficiency and 17 alpha-hydroxylase deficiency), the syndrome of apparent ... The features of mineralocorticoid excess are also often seen in Cushing's syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/10232050
www.ncbi.nlm.nih.gov
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summary
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Evidently many patients suffer unrecognized because the condition is more ... in 9% of the patients, apparent mineralocorticoid excess in 9%, asplenia in 19 ...
http://www.ncbi.nlm.nih.gov/pubmed/16684821?ordinalpos=4&ito...
www.ncbi.nlm.nih.gov
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summary
Pseudohyperaldosteronism - Wikipedia, the free encyclopedia
... in inappropriate stimulation of the mineralocorticoid receptor by cortisol. ... Apparent mineralocorticoid excess syndrome [edit] References ...
http://en.wikipedia.org/wiki/Pseudohyperaldosteronism
en.wikipedia.org
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summary
The human gene for 11 beta-hydroxysteroid dehydrogenase. Structure ...
The Type I (mineralocorticoid) receptor has identical ... with hypertension due to apparent mineralocorticoid excess, a deficiency in 11-HSD activity. ...
http://www.ncbi.nlm.nih.gov/pubmed/1885595
www.ncbi.nlm.nih.gov
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summary
Hypertension and hypokalemia: unusual syndromes.
... wasting should raise one's suspicion for a state of mineralocorticoid excess. ... a few of the unusual conditions which cause a true or apparent mineralocorticoid ...
http://www.ncbi.nlm.nih.gov/pubmed/9066195
www.ncbi.nlm.nih.gov
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juin 2006 ...
... 0.01% aphtes genitaux 3 0.01% aphtes génitaux 3 0.01% apparent mineralocorticoid excess 3 0.01% aptes 3 0.01% aptes.org 3 0.01% arachnoidalzyste 3 0.01 ...
http://www.orpha.net/stat/orphanet/search_200606.html
www.orpha.net
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summary
The mother or the fetus? 11beta-hydroxysteroid dehydrogenase type 2 ...
Mineralocorticoid Excess Syndrome, Apparent/embryology* Mineralocorticoid Excess Syndrome, Apparent/metabolism* Mothers. Placenta/enzymology ...
http://www.ncbi.nlm.nih.gov/pubmed/16597738?dopt=Abstract&ho...
www.ncbi.nlm.nih.gov
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summary
Congenital adrenal hyperplasia due to 11?-hydroxylase deficiency ...
... insufficiency and suppress excess mineralocorticoid and androgen production. ... X-linked ichthyosis · Apparent mineralocorticoid excess syndrome · Antley-Bixler ...
http://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_...
en.wikipedia.org
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summary
Gene structure and chromosomal localization of the human HSD11K gene ...
... for aldosterone on the type I mineralocorticoid receptor in the kidney. ... of the syndrome of apparent mineralocorticoid excess, which may represent a ...
http://www.ncbi.nlm.nih.gov/pubmed/8530071
www.ncbi.nlm.nih.gov
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Octobre ...
Hits Mots-clés -534 1.10% orphanet 463 0.95% adrenoleucodistrofia 314 0.65 ... tunnel 3 0.01% aparato de cowan 3 0.01% apparent mineralocorticoid excess 3 0.01 ...
http://www.orpha.net/stat/orphanet/search_200610.html
www.orpha.net
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summary
Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency ...
These features of mineralocorticoid excess are the major clinical clue ... X-linked ichthyosis · Apparent mineralocorticoid excess syndrome · Antley-Bixler ...
http://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_...
en.wikipedia.org
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Novembre ...
Hits Mots-clés -744 1.27% adrenoleucodistrofia 429 0.73% orphanet 372 0.63 ... 6 0.01% apparent mineralocorticoid excess 6 0.01% arachnoidalzyste ...
http://www.orpha.net/stat/orphanet/search_200611.html
www.orpha.net
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summary
Hyperimmunoglobulinemia D with recurrent fever - Wikipedia, the free ...
Hyperimmunoglobulinemia D with recurrent ... HIDS is one of a number of periodic fever syndromes. ... Apparent mineralocorticoid excess syndrome. Sex steroid ...
http://en.wikipedia.org/wiki/Hyperimmunoglobulinemia_D_with_recurrent_fever
en.wikipedia.org
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summary
Two elderly patients with mineralocorticoid excess due to 11 beta ...
... of 11beta-HSD2 to induce apparent mineralocorticoid excess (AME)-like condition. ... Mineralocorticoid Excess Syndrome, Apparent/blood ...
http://www.ncbi.nlm.nih.gov/pubmed/18379150
www.ncbi.nlm.nih.gov
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