Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis / Stayroula Papailiou ... [et al.]. -- Bibliogr. odkazy - Res. angl.

In Endocrine regulations. -- Bratislava : Institute of Experimental Endocrinology, 2020. -- s. 157-229. -- ISSN 1210-0668. -- Vol. 54, no. 3 (2020), s. 227-229

1. cytochróm P-450 CYP11B2 - deficit - genetika - novorodenec 2. mutácia 3. príznaky a symptómy 4. diagnostika diferenciálna 5. farmakoterapia 6. novorodenec

I. Papailiou, Stayroula
II. Endocrine regulations. -- Vol. 54, no. 3 (2020), s. 227-229

deficiencia aldosterónsyntázy typ II - mutácia génu CYP11B2 - variant c.554C>T (p.T185I) - kazuistika