Наукові праці. Кафедра медичної генетики
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Browsing Наукові праці. Кафедра медичної генетики by Subject "hyperornithinemia"
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Item Effectiveness of qualifying diagnostics of hereditary metabolic diseases with the use of gas chromatography / mass spectrometry by the example of the HHH syndrome(2014-06) Grechanina, Elena; Grechanina, Juliya; Zdybska, Olena; Kaniuka, Maksim; Molodan, Ludmila; Senatorova, GannaIn the process of specifying diagnosis of hereditary metabolic diseases, among others, we use gas chromatography / mass spectrometry. Diagnostic significance of this method was high. On the example of HHH syndrome with hyperornithinemia – hyperammonemia – homocitrullinuria shows the need to use this method in all cases with of episodes of hyperammonemia, there are indications of the disease in the early childhood on the background of triggers (infection).