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Determining the Reference Intervals of Long–Chain Fatty Acids, Phytanic Acid and Pristanic Acid for Diagnostics of Peroxisome Disorders in Childrenстатья
- Авторы: Mamedov I.S., Zolkina I.V., Glagovsky P.B., Sukhorukov V.S.
- Журнал: Journal of life science and biomedicine
- Номер: 4
- Год издания: 2016
- Издательство: Scienceline Publications, Ltd
- Местоположение издательства: Turkey
- Первая страница: 83
- Последняя страница: 89
- Аннотация: In this paper we are given the following information about the biochemical properties of long-chain fatty acids (LCFA), phytanic acid and pristanic acids and their biological role. This article describes procedure of the analysis of these compounds by gas chromatography-mass spectrometry (GC-MS) from the sample preparation step to obtain a specific result. Presented reference values of long chain fatty acids and main biochemical markers of peroxisome disorders (phytanic acid and pristanic acid) in plasma and examples described of changes of these values in various pathologies, such as hereditary diseases in peroxisomes in children and adult. The complex GC-MS analysis of LCFA, pristanic acid and phytanic acid is an effective method to identify patients with peroxisome impairment, especially for diagnostics Zellweger syndrome spectrum, rhizomelic chondrodisplasia punctata type 1 and Refsume’s disease. This article is intended for doctors clinical and laboratory diagnosis, specialists in the field of clinical genetics, pediatric neurologists, and scientists and audiences.
- Добавил в систему: Мамедов Ильгар Салехович