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A novel point mutation in P450c17 (CYP17) causing combined 17α-hydroxylase/17,20-lyase deficiency
ArticleAbstract: Context: Combined 17α-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperPalabras claves:Autores:Achermann J.C., Ahmad T., Brooke A.M., Gore M.E., Lin L., Monson J.P., Papari-Zareei M., Richard J. Auchus, Rumsby G., Shepherd J.H., Taylor N.F.Fuentes:scopusVariable phenotypes associated with aromatase (CYP19) insufficiency in humans
ArticleAbstract: Context: The P450 enzyme aromatase (CYP19) plays a crucial role in the endocrine and paracrine biosyPalabras claves:Autores:Achermann J.C., Burren C.P., Creighton S.M., Dattani M.T., Ercan O., Lin , Raza J., Richard J. AuchusFuentes: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