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ArticlesPeer ReviewedFull Text
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability
Author / Creator:van Spronsen, Francjan J ; Himmelreich, Nastassja ; Rüfenacht, Véronique ; Shen, Nan ; Vliet, Danique van ; Al-Owain, Mohammed ; Ramzan, Khushnooda ; Alkhalifi, Salwa M ; Lunsing, Roelineke J ; Heiner-Fokkema, Rebecca M ; Rassi, Anahita ; Gemperle-Britschgi, Corinne ; Hoffmann, Georg F ; Blau, Nenad ; Thöny, Beat
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2018-04, Vol.55 (4), p.249-253
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Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines
Author / Creator:Leuzzi, Vincenzo ; Chiarotti, Flavia ; Nardecchia, Francesca ; van Vliet, Danique ; van Spronsen, Francjan J
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2020-03, Vol.57 (3), p.145-150
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ArticlesPeer ReviewedFull Text
Large Neutral Amino Acid Supplementation Exerts Its Effect through Three Synergistic Mechanisms: Proof of Principle in Phenylketonuria Mice
Author / Creator:van Vliet, Danique ; Bruinenberg, Vibeke M. ; Mazzola, Priscila N. ; van Faassen, Martijn H. J. R. ; de Blaauw, Pim ; Kema, Ido P. ; Heiner-Fokkema, M. Rebecca ; van Anholt, Rogier D. ; van der Zee, Eddy A. ; van Spronsen, Francjan J.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-12, Vol.10 (12), p.e0143833-e0143833
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ArticlesPeer ReviewedFull Text
Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU)
Author / Creator:Bruinenberg, Vibeke M. ; van Vliet, Danique ; van der Goot, Els ; Counotte, Danielle S. ; Kuhn, Mirjam ; van Spronsen, Francjan J. ; van der Zee, Eddy A.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-03, Vol.14 (3), p.e0213391-e0213391
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ArticlesPeer ReviewedFull Text
Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?
Author / Creator:van Vliet, Danique ; van Wegberg, Annemiek M.J. ; Ahring, Kirsten ; Bik-Multanowski, Miroslaw ; Casas, Kari ; Didycz, Bozena ; Djordjevic, Maja ; Hertecant, Jozef L. ; Leuzzi, Vincenzo ; Mathisen, Per ; Nardecchia, Francesca ; Powell, Kimberly K. ; Rutsch, Frank ; Stojiljkovic, Maja ; Trefz, Fritz K. ; Usurelu, Natalia ; Wilson, Callum ; van Karnebeek, Clara D. ; Hanley, William B. ; van Spronsen, Francjan J.
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2019-10, Vol.11 (11), p.2572
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ArticlesPeer ReviewedFull Text
Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1
Author / Creator:van Ginkel, Willem G. ; van Vliet, Danique ; Burgerhof, Johannes G. M. ; de Blaauw, Pim ; Rubio Gozalbo, M. Estela ; Heiner-Fokkema, M. Rebecca ; van Spronsen, Francjan J.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-09, Vol.12 (9), p.e0185342-e0185342
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ArticlesPeer ReviewedFull Text
Blood and Brain Biochemistry and Behaviour in NTBC and Dietary Treated Tyrosinemia Type 1 Mice
Author / Creator:van Ginkel, Willem G. ; van Vliet, Danique ; van der Goot, Els ; Faassen, Martijn H. J. R. ; Vogel, Arndt ; Heiner-Fokkema, M. Rebecca ; van der Zee, Eddy. A. ; van Spronsen, Francjan J.
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2019-10, Vol.11 (10), p.2486
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ArticlesPeer ReviewedFull Text
The Benefit of Large Neutral Amino Acid Supplementation to a Liberalized Phenylalanine-Restricted Diet in Adult Phenylketonuria Patients: Evidence from Adult Pah-Enu2 Mice
Author / Creator:van Vliet, Danique ; van der Goot, Els ; van Ginkel, Wiggert G. ; van Faassen, Martijn H. J. R. ; de Blaauw, Pim ; Kema, Ido P. ; Martinez, Aurora ; Heiner-Fokkema, M. Rebecca ; van der Zee, Eddy A. ; van Spronsen, Francjan J.
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2019-09, Vol.11 (9), p.2252
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ArticlesPeer ReviewedFull Text
The Behavioral Consequence of Phenylketonuria in Mice Depends on the Genetic Background
Author / Creator:Bruinenberg, Vibeke M. ; van der Goot, Els ; van Vliet, Danique ; de Groot, Martijn J. ; Mazzola, Priscila N. ; Heiner-Fokkema, M. Rebecca ; van Faassen, Martijn ; van Spronsen, Francjan J. ; van der Zee, Eddy A.
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in behavioral neuroscience, 2016-12, Vol.10, p.233-233
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ArticlesFull Text
Phenylketonuria: modelling cerebral amino acid and neurotransmitter metabolism
Author / Creator:Wegrzyn, Agnieszka B ; Danique Van Vliet ; Karen Van Eunen ; Heiner-Fokkema, M Rebecca ; Eddy A Van Der Zee ; Francjan Van Spronsen ; Bakker, Barbara M
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2024-01
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ArticlesPeer ReviewedFull Text
Can untreated PKU patients escape from intellectual disability? A systematic review
Author / Creator:van Vliet, Danique ; van Wegberg, Annemiek M. J. ; Ahring, Kirsten ; Bik-Multanowski, Miroslaw ; Blau, Nenad ; Bulut, Fatma D. ; Casas, Kari ; Didycz, Bozena ; Djordjevic, Maja ; Federico, Antonio ; Feillet, François ; Gizewska, Maria ; Gramer, Gwendolyn ; Hertecant, Jozef L. ; Hollak, Carla E. M. ; Jørgensen, Jens V. ; Karall, Daniela ; Landau, Yuval ; Leuzzi, Vincenzo ; Mathisen, Per ; Moseley, Kathryn ; Mungan, Neslihan Ö. ; Nardecchia, Francesca ; Õunap, Katrin ; Powell, Kimberly K. ; Ramachandran, Radha ; Rutsch, Frank ; Setoodeh, Aria ; Stojiljkovic, Maja ; Trefz, Fritz K. ; Usurelu, Natalia ; Wilson, Callum ; van Karnebeek, Clara D. ; Hanley, William B. ; van Spronsen, Francjan J.
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2018-08, Vol.13 (1), p.149-149, Article 149
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ArticlesPeer ReviewedFull Text
Single amino acid supplementation in aminoacidopathies: a systematic review
Author / Creator:van Vliet, Danique ; Derks, Terry GJ ; van Rijn, Margreet ; de Groot, Martijn J ; MacDonald, Anita ; Heiner-Fokkema, M Rebecca ; van Spronsen, Francjan J
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2014-01, Vol.9 (1), p.7-7, Article 7
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ArticlesPeer ReviewedFull Text
A Specific Nutrient Combination Attenuates the Reduced Expression of PSD-95 in the Proximal Dendrites of Hippocampal Cell Body Layers in a Mouse Model of Phenylketonuria
Author / Creator:Bruinenberg, Vibeke ; Van Vliet, Danique ; Attali, Amos ; De Wilde, Martijn ; Kuhn, Mirjam ; Van Spronsen, Francjan ; Van der Zee, Eddy
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2016-03, Vol.8 (4), p.185-185
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Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability

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Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines

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

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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)

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Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

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Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1

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Blood and Brain Biochemistry and Behaviour in NTBC and Dietary Treated Tyrosinemia Type 1 Mice

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The Benefit of Large Neutral Amino Acid Supplementation to a Liberalized Phenylalanine-Restricted Diet in Adult Phenylketonuria Patients: Evidence from Adult Pah-Enu2 Mice

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The Behavioral Consequence of Phenylketonuria in Mice Depends on the Genetic Background

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Phenylketonuria: modelling cerebral amino acid and neurotransmitter metabolism

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Can untreated PKU patients escape from intellectual disability? A systematic review

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Single amino acid supplementation in aminoacidopathies: a systematic review

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A Specific Nutrient Combination Attenuates the Reduced Expression of PSD-95 in the Proximal Dendrites of Hippocampal Cell Body Layers in a Mouse Model of Phenylketonuria

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