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http://repo.knmu.edu.ua/handle/123456789/25155| Title: | Porphyria : Guidelines for the training of interns, 5th year students |
| Other Titles: | Порфірія : методичні вказівки для підготовки лікарів-інтернів, студентів 5-го курсу |
| Authors: | Grechanina, Elena Grechanina, Juliya Molodan, Ludmila Zdybskaya, Olena Bugaeva, Olena Efremova, Olesya Oliinyk, Daria |
| Keywords: | Porphyria Impaired porphyrin and bilirubin metabolism (E80) МР2019 |
| Issue Date: | 2019 |
| Citation: | Porphyria : Guidelines in the discipline "Medical genetics" for the training of interns, 5th year students and cadet doctors of postgraduate education cycles / comp.: Ye. Ya. Grechanina, Yu. B. Grechanina, S. V. Beletskaya, L. V. Molodan, Ye. P. Zdybskaya, E. V. Buhaiova, O. A. Efremova, D. V. Oliinyk. – Kharkov : KhNMU, 2019. – 22 с. |
| Abstract: | Porphyria is a group of hereditary diseases that are based on a violation of heme biosynthesis, which leads to excessive accumulation of porphyrins and their precursors in the body, namely, porphobilinogen (PBG) and δ-amino-levulinic acid (ALA). Excess of these substances has a toxic effect on the body and causes characteristic clinical symptoms. The reason for this violation is the 8 utation of the gene responsible for the activity of one of the enzymes involved in multistage heme synthesis. |
| Description: | Затверджено вченою радою ХНМУ. Протокол № 8 від 19.09.2019. |
| URI: | https://repo.knmu.edu.ua/handle/123456789/25155 |
| Appears in Collections: | Навчально-методичні видання. Кафедра медичної генетики |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Гречаніна Рorphyria Порфірія англ .pdf | 390,45 kB | Adobe PDF |  View/Open |
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