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Phenylketonuria

Management precautions for risk of obesity are necessary among infants with PKU carrying the rs113883650 variant of the LAT1 gene: A cross-sectional study

Miroslaw Bik-Multanowski, Bozena Didycz, Kinga Bik-Multanowska

The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice model

Kirsten K. Ahring, Frederik Dagnæs-Hansen, [ ... ], Lisbeth B. Møller

BH₄-deficient hyperphenylalaninemia in Russia

Polina Gundorova, Irina A. Kuznetcova, [ ... ], Aleksander V. Polyakov

Development of a porcine model of phenylketonuria with a humanized R408W mutation for gene editing

Robert A. Kaiser, Daniel F. Carlson, [ ... ], Joseph B. Lillegard

Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU)

Vibeke M. Bruinenberg, Danique van Vliet, [ ... ], Eddy A. van der Zee

Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia

Polina Gundorova, Anna A. Stepanova, [ ... ], Aleksander V. Polyakov

Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus

Polina Gundorova, Rena A. Zinchenko, [ ... ], Aleksander V. Polyakov

Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria

Elena Fiori, Diego Oddi, [ ... ], Tiziana Pascucci

Genetically engineered probiotic for the treatment of phenylketonuria (PKU); assessment of a novel treatment in vitro and in the PAHenu2 mouse model of PKU

Katherine E. Durrer, Michael S. Allen, Ione Hunt von Herbing

Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria

Sean M. Bell, Dan J. Wendt, [ ... ], Paul A. Fitzpatrick

Evaluation of Tetrahydrobiopterin Therapy with Large Neutral Amino Acid Supplementation in Phenylketonuria: Effects on Potential Peripheral Biomarkers, Melatonin and Dopamine, for Brain Monoamine Neurotransmitters

Shoji Yano, Kathryn Moseley, Xiaowei Fu, Colleen Azen

Phenylketonuria and Gut Microbiota: A Controlled Study Based on Next-Generation Sequencing

Felipe Pinheiro de Oliveira, Roberta Hack Mendes, [ ... ], Ida Vanessa Doederlein Schwartz

Large Neutral Amino Acid Supplementation Exerts Its Effect through Three Synergistic Mechanisms: Proof of Principle in Phenylketonuria Mice

Danique van Vliet, Vibeke M. Bruinenberg, [ ... ], Francjan J. van Spronsen

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