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Роль тандемной масс-спектрометрии в диагностике наследственных болезней обмена веществ

https://doi.org/10.17650/2311-1267-2018-5-3-96-105

Полный текст:

Аннотация

В статье рассматривается применение тандемной масс-спектрометрии в диагностике и скрининге наследственных болезней обмена веществ. Широкий спектр заболеваний, специфичность, простота пробоподготовки и высокая пропускная способность, обеспечиваемая технологией тандемой масс-спетрометрии (МС/МС), привели к разработке во многих странах программ расширенного скрининга новорожденных на аминоацидопатии, органические ацидурии и дефекты окисления жирных кислот (ОЖК). Применение МС/МС в селективном скрининге позволило существенно улучшить диагностику некоторых классов заболеваний, таких как дефекты ОЖК. Новые специфические и быстрые методы МС/МС и высоко эффективной жидкостной хроматографии–МС/МС дополняют или заменяют некоторые из классических методов газовой хроматографии с масс-спектрометрической детекцией для множества метаболитов и заболеваний. В ближайшее время следует ожидать появления новых перспективных методов для диагностики не только отдельных нозологических форм, но и целых групп наследственных болезней обмена веществ.

Об авторах

Г. В. Байдакова
ФГБНУ Медико-генетический научный центр
Россия

Галина Викторовна Байдакова.

115522, Москва, ул. Москворечье, 1


Т. А. Иванова
ФГБНУ Медико-генетический научный центр
Россия

115522, Москва, ул. Москворечье, 1



Е. Ю. Захарова
ФГБНУ Медико-генетический научный центр
Россия

115522, Москва, ул. Москворечье, 1



О. С. Кокорина
Медицинская компания INVITRO
Россия

125047, Москва, ул. 4-я Тверская-Ямская, 16, корп. 3



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Для цитирования:


Байдакова Г.В., Иванова Т.А., Захарова Е.Ю., Кокорина О.С. Роль тандемной масс-спектрометрии в диагностике наследственных болезней обмена веществ. Российский журнал детской гематологии и онкологии (РЖДГиО). 2018;5(3):96-105. https://doi.org/10.17650/2311-1267-2018-5-3-96-105

For citation:


Baydakova G.V., Ivanova T.A., Zakharova E.Y., Kokorina O.S. The role of tandem mass spectrometry in the diagnosis of inherited metabolic diseases. Russian Journal of Pediatric Hematology and Oncology. 2018;5(3):96-105. (In Russ.) https://doi.org/10.17650/2311-1267-2018-5-3-96-105

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ISSN 2311-1267 (Print)
ISSN 2413-5496 (Online)