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schijnbare mineralocorticoïde overschrijding - erfelijke aandoening die resulteert in een hoge bloeddruk
Definitie voor schijnbare mineralocorticoïde overschrijding
Apparent mineralocorticoid excess is an autosomal recessive cause of hypertension and hypokalaemia which responds to glucocorticoid treatment.
meer
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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enkele veel voorkomende symptomen
hoge bloeddruk
spierkrampen
sommige gerelateerde diagnoses
1 - 7 of
30
diagnoses
atherosclerose
perifere vasculaire ziekte
polyarteritis nodosa
vertebrobasilaire insufficiëntie syndroom
coarctatio aorta
pseudoxanthoma elasticum
tubereuze sclerose
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heb ik 'schijnbare mineralocorticoïde overschrijding'?
Bovendien moeten de volgende diagnostische tests kunnen worden moeten helpen controleren of de diagnose:
diagnostische test zoekresultaten voor 'schijnbare mineralocorticoïde overschrijding'
1 - 5 of
8
diagnostische tests
Plasma renine activiteit PRA
schijnbare mineralocorticoïde overschrijding en Plasma renine activiteit PRA
Serum aldosteron
schijnbare mineralocorticoïde overschrijding en Serum aldosteron
ratio van het serum cortisol en cortison
schijnbare mineralocorticoïde overschrijding en ratio van het serum cortisol en cortison
urine verhouding van tetrahydrocortisol / tetrahydrocortisone THF / DE
schijnbare mineralocorticoïde overschrijding en urine verhouding van tetrahydrocortisol / tetrahydrocortisone THF / DE
Complete metabole paneel
schijnbare mineralocorticoïde overschrijding en Complete metabole paneel
Moleculair genetische studies
schijnbare mineralocorticoïde overschrijding en Moleculair genetische studies
serum elektrolyten
schijnbare mineralocorticoïde overschrijding en serum elektrolyten
urine-output
schijnbare mineralocorticoïde overschrijding en urine-output
voor meer kunt u inloggen, aanmelden is gratis (klik om in te loggen)
therapeutische procedures voor 'schijnbare mineralocorticoïde overschrijding'?
Beheren of de behandeling van een ziekte moet altijd worden bepaald door een patiënten zorgverstrekker. Hieronder is een lijst van de bijbehorende procedures of therapeutische medicijnen voor apparent mineralocorticoid excess:
therapeutische procedure zoekresultaten voor 'schijnbare mineralocorticoïde overschrijding'
rankings zijn computer gegenereerd. raadpleeg uw zorgverlener.
medicatie zoekresultaten voor 'schijnbare mineralocorticoïde overschrijding'
rankings zijn computer gegenereerd. raadpleeg uw zorgverlener.
zoekresultaten voor schijnbare mineralocorticoïde overschrijding
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1 - 50
- AAM
Apparent mineralocorticoid excess syndrome - Wikipedia, the free ...
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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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Orphanet: Apparent mineralocorticoid excess
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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 ...
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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 ...
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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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summary
Hypertension and the cortisol-cortisone shuttle.
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... 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 ...
[
Vertaal deze pagina
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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 ...
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... 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 ...
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... 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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summary
New Medical Subject Headings by Subcategory
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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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summary
Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial ...
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... 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 ...
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Vertaal deze pagina
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... 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 ...
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... 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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summary
A mutation in the HSD11B2 gene in a family with apparent ...
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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 ...
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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 ...
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... 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
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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
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... 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 ...
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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 ...
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... 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 ...
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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 ...
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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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summary
Mineralocorticoid activity of liquorice: 11-beta-hydroxysteroid ...
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... 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 ...
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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
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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
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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
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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 ...
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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 ...
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... 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 ...
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... 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.
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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 ...
[
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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.
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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
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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 ...
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... 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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218030
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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 ...
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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.
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... 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.
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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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Pseudohyperaldosteronism - Wikipedia, the free encyclopedia
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... 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 ...
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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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Hypertension and hypokalemia: unusual syndromes.
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... 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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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juin 2006 ...
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... 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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The mother or the fetus? 11beta-hydroxysteroid dehydrogenase type 2 ...
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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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Congenital adrenal hyperplasia due to 11?-hydroxylase deficiency ...
[
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... 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 ...
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... 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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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Octobre ...
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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 ...
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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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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Novembre ...
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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 ...
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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 ...
[
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... 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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summary
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