Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels

Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels

Abstract Objective The objective was to deepen the understanding of the causes of individual variability in phenylketonuria (PKU) by investigating which metabolic variables are most important for predicting cognitive outcomes (Phe average vs Phe variation) and by assessing the risk of cognitive impa...

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Bibliographic Details
Main Authors: Cristina Romani, Filippo Manti, Francesca Nardecchia, Federica Valentini, Nicoletta Fallarino, Claudia Carducci, Sabrina De Leo, Anita MacDonald, Liana Palermo, Vincenzo Leuzzi
Format: Article
Language:English
Published: BMC 2019-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
PKU cognitive outcomes
Phe associations
Phe fluctuations
Phe variations
PKU guidelines
Online Access:https://doi.org/10.1186/s13023-019-1225-z

Internet

https://doi.org/10.1186/s13023-019-1225-z

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