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Molecular characteristics of polish patients with epidermolysis bullosa hereditaria Charakterystyka molekularna polskich pacjentów z dziedziczną postacią pęcherzowego oddzielania się naskórka (epidermolysis bullosa hereditaria)

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Author(s): Katarzyna Wertheim-Tysarowska | Agnieszka Sobczyńska-Tomaszewska | Cezary Kowalewski | Anna Kutkowska-Kaźmierczak | Katarzyna Woźniak | Aleksandra Susek | Katarzyna Niepokój | Joanna Sypniewska-Jutkiewicz | Anna Stępień | Jerzy Bal

Journal: Przegląd Pediatryczny
ISSN 0137-723X

Volume: 41;
Issue: 2;
Start page: 61;
Date: 2011;
Original page

Keywords: genetics | monogenic | disorders

ABSTRACT
Within the last several years rapid development of genetics and molecular biology has been observed, as well as the development of diagnostic methods based on these techniques. It has significantly widened current capabilities of assessment and clinical characteristics of pediatric patients. Application of the latest molecular techniques allows for verification of the diagnosis and helps in the choice of optimal form of therapy. Replacement therapy in these cases has resulted not only in economic profit, but also in better treatment results, while adjusting the management and the panel of diagnostic tests for an individual patient in personalization of therapy.
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