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Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patien
ArticleAbstract: Congenital adrenal hyperplasia (CAH) resulting from 17α-hydroxylase/17,20-lyase deficiency is a rarePalabras claves:Autores:Costenaro F., Czepielewski M., Kater C.E., Papari-Zareei M., Richard J. Auchus, Rodrigues T.Fuentes:scopusDistinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency
ArticleAbstract: Objectives: (1) Characterize serum (S) and urinary (U) steroid metabolites in complete CYP17 deficiePalabras claves:17, 17-hydroxylase deficiency, 20-lyase deficiency, Congenital adrenal hyperplasia, Corticosterone, CYP17, Urinary steroid metabolomeAutores:Kater C.E., Neres M.S., Richard J. Auchus, Shackleton C.H.L.Fuentes:scopus