Correlations of blood and brain biochemistry in phenylketonuria: Results from the Pah-enu2 PKU mouse

Allysa M Dijkstra, Ninke van Vliet,Danique van Vliet,Cristina Romani,Stephan C J Huijbregts,Els van der Goot,Iris B Hovens,Eddy A van der Zee,Ido P Kema,M Rebecca Heiner-Fokkema,Francjan J van Spronsen

Molecular Genetics and Metabolism（2021）

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摘要

Blood Phe is still the best amino acid predictor of brain biochemistry in PKU. Nevertheless, neurocognitive and behavioural outcome cannot fully be explained by blood or brain Phe concentrations, necessitating a search for other additional parameters.

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关键词

Phenylketonuria,Brain biochemistry,Plasma amino acids,Large Neutral Amino Acids (LNAA),Monoaminergic neurotransmitters,Neurocognitive outcome

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