Number of the records: 1
Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis
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$a eng $b eng 044 $a xo $c SK 245 10
$a Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis / $c Stayroula Papailiou ... [et al.] 504 $a Bibliogr. odkazy 504 $a Res. angl. 650 12
$7 sllk_us_auth*d019405 $a cytochróm P-450 CYP11B2 $x deficit $x genetika $x novorodenec $2 mesh 650 22
$7 sllk_us_auth*d009154 $a mutácia $2 mesh 650 22
$7 sllk_us_auth*d012816 $a príznaky a symptómy $2 mesh 650 22
$7 sllk_us_auth*d003937 $a diagnostika diferenciálna $2 mesh 650 22
$7 sllk_us_auth*d004358 $a farmakoterapia $2 mesh 650 22
$7 sllk_us_auth*d007231 $a novorodenec $9 C $2 mesh 653 2-
$a deficiencia aldosterónsyntázy typ II 653 2-
$a varianty génové patogénne 653 2-
$a gén CYP11B2 653 2-
$a mutácia génu CYP11B2 - variant c.554C>T (p.T185I) 653 2-
$a kazuistika 700 1-
$7 sllk_us_auth*0052258 $a Papailiou, Stayroula $4 aut 773 0-
$7 nnas $w sllk_us_cat*0167330 $t Endocrine regulations $x 1210-0668 $d Bratislava : Institute of Experimental Endocrinology, 2020 $g Vol. 54, no. 3 (2020), s. 227-229
Number of the records: 1