Please use this identifier to cite or link to this item: http://repo.knmu.edu.ua/handle/123456789/7247
Title: Effectiveness of qualifying diagnostics of hereditary metabolic diseases with the use of gas chromatography / mass spectrometry by the example of the HHH syndrome
Authors: Grechanina, Elena
Grechanina, Juliya
Zdybska, Olena
Kaniuka, Maksim
Molodan, Ludmila
Senatorova, Ganna
Keywords: HHH syndrome
hyperornithinemia
hyperammonemia
gas chromatography / mass - spectrometry
homocitrullinuria
thrombophilia
rare diseases
Issue Date: Jun-2014
Citation: Effectiveness of qualifying diagnostics of hereditary metabolic diseases with the use of gas chromatography / mass spectrometry by the example of the HHH syndrome / E. Ya. Grechanina, Yu. B. Grechanina, O. P. Zdybska, M. V. Kaniuka, L. V. Molodan, G. S. Senatorova // British Journal of Science, Education and Culture. – 2014. – № 1 (5), vol. 3. – Р. 245–256.
Abstract: In 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).
Description: The study performed has demonstrated the high effectiveness of GC/MS in qualifying diagnostics of HMD provided classical methods of clinical genetics (detailed information about the case history and life of the family, analysis of ancestry, and quality somato-genetical investigation with a syndromological analysis) are combined with advanced hitech methods.For unambiguous prognosis of progeny in this family, preconception preventive treatment and molecular-genetic investigations of mutations associated with the HHH syndrome are conducted.
URI: http://repo.knmu.edu.ua/handle/123456789/7247
ISSN: 0007-1657
Appears in Collections:Наукові праці. Кафедра медичної генетики

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