- Aldosterone synthase deficiency type II: an unusual presentation of t…
Number of the records: 1  

Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis

  1. SYS0167441
    LBL
      
    00000naa--2200000-a-4500
    005
      
    20250607172200.9
    008
      
    200909s2020----xo-----e------------eng--
    040
      
    $a BA006 $b slo
    041
    0-
    $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  

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