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Multigene panel testing results in patients with dyslipidemiaстатья Тезисы
Статья опубликована в высокорейтинговом журнале
Статья опубликована в журнале из списка Web of Science и/или Scopus- Авторы: Vasiluev P.A., Ivanova O.N., Ezhov M.V., Chubykina U.V., Prus Y., Semenova N., Guseva D., Malyshev P., Zakharova E., Dadali E.
- Журнал: Atherosclerosis
- Том: 331
- Год издания: 2021
- Издательство: Elsevier BV
- Местоположение издательства: Netherlands
- Первая страница: e214
- DOI: 10.1016/j.atherosclerosis.2021.06.658
- Аннотация: Lipid metabolism disorder is one of the most common pathological conditions. Significant part of all dyslipidemias are primary or hereditary. The diagnostic of hereditary disorders of lipid metabolism is difficult due to their extreme heterogeneity and the similarity of symptoms (in some forms). In the context of preventive and personalized medicine, as well as new, specific treatments, the role of accurate diagnostic of hereditary dyslipidemias can hardly be overestimated. Our aim was to show the heterogeneity of hereditary dyslipidemias and present the need of genetic testing, as well as the ineffectiveness of using test systems that assess only «hot spots» mutations. To achieve this, we performed DNA diagnostics of patients with a referral diagnosis of «primary dyslipidemia».
- Добавил в систему: Васильев Петр Андреевич