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Fisiología humana(2)
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scopus(2)
Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
ReviewAbstract: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisolPalabras claves:21-hydroxylase deficiency, aldosterone, cortisol, CYP21A2, Glucocorticoid, mineralocorticoid, Steroid biosynthesisAutores:Arlt W., Faisal Ahmed S., Falhammar H., Flück C.E., Guasti L., Huebner A., Kortmann B.B.M., Krone N., Merke D.P., Miller W.L., Nordenström A., Reisch N., Richard J. Auchus, Sandberg D.E., Speiser P.W., Stikkelbroeck N.M.M.L., Touraine P., Utari A., van der Grinten H.L.C., White P.C., Wudy S.A.Fuentes:scopusPbkp_redicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing
ArticleAbstract: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present witPalabras claves:Addison disease, CYP11A1, Cytochrome p450scc, Side chain cleavage enzyme, Silent variantAutores:Achermann J.C., Brain C.E., Buonocore F., Burgos-Tirado N., Capper C.P., Cariou B., Cheetham T.D., Conwell L.S., Couch R., Crowne E., Donaldson M.D., Drui D., Duncan E.L., Fowler D.J., Guasti L., Gupta S., Guran T., Gurbuz F., Harris M., Hindmarsh P.C., Hughes C.R., Johnson S., Lindsay R., Lopez-Siguero J.P., Maharaj A., Maudhoo A., McInerney-Leo A.M., Meimaridou E., Metherell L.A., Peng H.M., Prasad R., Richard J. Auchus, Ruiz-Babot G., Spoudeas H.A., Striglioni N., Suntharalingham J.P., Yuksel B.Fuentes:scopus