Assessment of the phenylketonuria (PKU)-associated mutation p.R155H biochemical manifestations by mass spectrometry-based blood metabolite profiling

Research output: Contribution to journal › Article › peer-review

Translated title of the contribution	Оценка степени проявления фенилкетонурии, обусловленной гомозиготной мутацией p.R155H, при помощи масс спектрометрического анализа метаболитов крови
Original language	English
Pages (from-to)	42-46
Number of pages	5
Journal	Acta Naturae
Volume	11
Issue number	2
DOIs	https://doi.org/10.32607/20758251-2019-11-2-42-46
Publication status	Published - 16 Aug 2019

Blood carnitine, Blood phenylalanine, Hyperphenylalaninemia, Mass spectrometry, Missense mutation, P.R155H, Phenylketonuria, CARNITINE, blood phenylalanine, hyperphenylalaninemia, missense mutation, DEFICIENCY, SPECIMENS, TYROSINE, p.R155H, blood carnitine, mass spectrometry, PHENYLALANINE, phenylketonuria

ID: 21467914