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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

published 17 Feb 2022

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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, Annemarie Brüel, Mette Christensen, Erik Jensen, Thomas G. Jensen, Mogens Johannsen, Karen S. Johansen, Allan M. Lund, Jesper G. Madsen, Karen Brøndum-Nielsen, Michael Pedersen, Lambert K. Sørensen, Mads Kjolby, Lisbeth B. Møller

published 11 Jan 2022

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BH₄-deficient hyperphenylalaninemia in Russia

Polina Gundorova, Irina A. Kuznetcova, Galina V. Baydakova, Anna A. Stepanova, Yulia S. Itkis, Victoria S. Kakaulina, Irina P. Alferova, Lidya V. Lyazina, Lilya P. Andreeva, Ilya Kanivets, Ekaterina Y. Zakharova, Sergey I. Kutsev, Aleksander V. Polyakov

published 06 Apr 2021

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

Robert A. Kaiser, Daniel F. Carlson, Kari L. Allen, Dennis A. Webster, Caitlin J. VanLith, Clara T. Nicolas, Lori G. Hillin, Yue Yu, Catherine W. Kaiser, William R. Wahoff, Raymond D. Hickey, Adrienne L. Watson, Shelley R. Winn, Beat Thöny, Douglas R. Kern, Cary O. Harding, Joseph B. Lillegard

published 25 Jan 2021

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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, Els van der Goot, Danielle S. Counotte, Mirjam Kuhn, Francjan J. van Spronsen, Eddy A. van der Zee

published 15 Mar 2019

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

Polina Gundorova, Anna A. Stepanova, Irina A. Kuznetsova, Sergey I. Kutsev, Aleksander V. Polyakov

published 22 Jan 2019

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

Polina Gundorova, Rena A. Zinchenko, Irina A. Kuznetsova, Elena A. Bliznetz, Anna A. Stepanova, Aleksander V. Polyakov

published 01 Aug 2018

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

Elena Fiori, Diego Oddi, Rossella Ventura, Marco Colamartino, Alessandro Valzania, Francesca Romana D’Amato, Vibeke Bruinenberg, Eddy van der Zee, Stefano Puglisi-Allegra, Tiziana Pascucci

published 29 Aug 2017

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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

published 17 May 2017

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

Sean M. Bell, Dan J. Wendt, Yanhong Zhang, Timothy W. Taylor, Shinong Long, Laurie Tsuruda, Bin Zhao, Phillip Laipis, Paul A. Fitzpatrick

published 10 Mar 2017

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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

published 11 Aug 2016

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

Felipe Pinheiro de Oliveira, Roberta Hack Mendes, Priscila Thiago Dobbler, Volker Mai, Victor Salter Pylro, Sheldon G Waugh, Filippo Vairo, Lilia Farret Refosco, Luiz Fernando Würdig Roesch, Ida Vanessa Doederlein Schwartz

published 23 Jun 2016

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

Danique van Vliet, Vibeke M. Bruinenberg, Priscila N. Mazzola, Martijn H. J. R. van Faassen, Pim de Blaauw, Ido P. Kema, M. Rebecca Heiner-Fokkema, Rogier D. van Anholt, Eddy A. van der Zee, Francjan J. van Spronsen

published 01 Dec 2015

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