Effectiveness of qualifying diagnostics of hereditary metabolic diseases with the use of gas chromatography / mass spectrometry by the example of the HHH syndrome

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dc.contributor.authorGrechanina, Elena
dc.contributor.authorGrechanina, Juliya
dc.contributor.authorZdybska, Olena
dc.contributor.authorKaniuka, Maksim
dc.contributor.authorMolodan, Ludmila
dc.contributor.authorSenatorova, Ganna
dc.date.accessioned2014-11-03T12:08:34Z
dc.date.available2014-11-03T12:08:34Z
dc.date.issued2014-06
dc.descriptionThe 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.uk_UA
dc.description.abstractIn 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).uk_UA
dc.identifier.citationEffectiveness 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.uk_UA
dc.identifier.issn0007-1657
dc.identifier.urihttps://repo.knmu.edu.ua/handle/123456789/7247
dc.language.isoenuk_UA
dc.subjectHHH syndromeuk_UA
dc.subjecthyperornithinemiauk_UA
dc.subjecthyperammonemiauk_UA
dc.subjectgas chromatography-mass spectrometryuk_UA
dc.subjecthomocitrullinuriauk_UA
dc.subjectthrombophiliauk_UA
dc.subjectrare diseasesuk_UA
dc.titleEffectiveness of qualifying diagnostics of hereditary metabolic diseases with the use of gas chromatography / mass spectrometry by the example of the HHH syndromeuk_UA
dc.typeArticleuk_UA

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