Akademska digitalna zbirka SLovenije - logo
Narodna in univerzitetna knjižnica, Ljubljana (NUK)
Naročanje gradiva za izposojo na dom
Naročanje gradiva za izposojo v čitalnice
Naročanje kopij člankov
Urnik dostave gradiva z oznako DS v signaturi
  • Priporočila za odkrivanje in zdravljenje Fabryjeve bolezni v Sloveniji = Recommendation for diagnosis and treatment of Fabry's disease in Slovenia
    Vujkovac, Bojan
    Background Fabry disease is a rare X-chromosome linked disease. Due to gene mutation, activity of enzyme agalactosidase A is lowered or absent and sphingolipids care deposited in different organ ... cells. All males with gene mutation are affected but females too, due to X chromosome inactivation, can frequently be affected as well, although usually to a lesser extend. Disease is slowly progressive and there is an early dysfunction of several organs, specially endothelium, kidney, heart and central nervous system, which all leads to early death of the patient. Conclusions Recently, a specific enzyme replacement therapy, based on recombinant technology, was discovered. Specific therapy is effective and safe. Due to a new therapy there was a need to set objective criteria when to start with enzyme replacement therapy, but also a need to more complex, multidisciplinary approach to those patients. This article is an initial proposal for systematic management of Fabry diseasein our country.
    Vir: Zdravniški vestnik : glasilo Slovenskega zdravniškega društva = Slovenian medical journal = journal of Slovenian Medical Association. - ISSN 1318-0347 (Letn. 75, št. 12, dec. 2006, str. 769-775)
    Vrsta gradiva - članek, sestavni del
    Leto - 2006
    Jezik - slovenski
    COBISS.SI-ID - 22404313

    Povezava(-e):

    Digitalna knjižnica Slovenije - dLib.si

Vnos na polico