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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)
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.
Appears in Collections:Навчально-методичні видання. Кафедра медичної генетики

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