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

  1. TitleAldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis / Stayroula Papailiou ... [et al.]
    Another responsib. Papailiou, Stayroula (Author)
    NoteBibliogr. odkazy. Res. angl.
    In Endocrine regulations. -- ISSN 1210-0668. -- Vol. 54, no. 3 (2020), s. 227-229
    Call numberC 1685
    MeSH Subject cytochróm P-450 CYP11B2 - deficit - genetika - novorodenec
    mutácia
    príznaky a symptómy
    diagnostika diferenciálna
    farmakoterapia
    novorodenec
    Keywords deficiencia aldosterónsyntázy typ II * varianty génové patogénne * gén CYP11B2 * mutácia génu CYP11B2 - variant c.554C>T (p.T185I) * kazuistika
    LanguageEnglish
    CountrySlovakia
    DatabaseARTICLES
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Number of the records: 1  

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