Preventive use of nitisinone in alkaptonuria

by Bruce H. R. Wolffenbuttel, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Published 2021-08-01

A Microbial Community Ecology Perspective on the Gut-Microbiome-Brain Axis

by Els van der Goot, Els van der Goot, Francjan J. van Spronsen, Joana Falcão Salles, Eddy A. van der Zee
Published 2020-09-01

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

by 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 2019-01-01

Sleep Disturbances in Phenylketonuria: An Explorative Study in Men and Mice

by Eddy A. Van der Zee, Vibeke M. Bruinenberg, Marijke C. M. Gordijn, Marijke C. M. Gordijn, Anita MacDonald, Francjan J. van Spronsen
Published 2017-04-01

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

by Vibeke M. Bruinenberg, Danique van Vliet, Amos Attali, Martijn C. de Wilde, Mirjam Kuhn, Francjan J. van Spronsen, Eddy A. van der Zee
Published 2016-03-01

Aspartame and Phe-Containing Degradation Products in Soft Drinks across Europe

by Kimber van Vliet, Elise S. Melis, Pim de Blaauw, Esther van Dam, Ronald G. H. J. Maatman, David Abeln, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema
Published 2020-06-01

Dried blood spot versus venous blood sampling for phenylalanine and tyrosine

by Kimber van Vliet, Wiggert G. van Ginkel, Esther van Dam, Pim de Blaauw, Martijn Koehorst, Hermi A. Kingma, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema
Published 2020-04-01

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

by Willem G van Ginkel, Danique van Vliet, Johannes G M Burgerhof, Pim de Blaauw, M Estela Rubio Gozalbo, M Rebecca Heiner-Fokkema, Francjan J van Spronsen
Published 2017-01-01

Acute exercise in treated phenylketonuria patients: Physical activity and biochemical response

by Priscila Nicolao Mazzola, Bruno Costa Teixeira, Gabriel Henrique Schirmbeck, Alvaro Reischak-Oliveira, Terry G.J. Derks, Francjan J. van Spronsen, Carlos Severo Dutra-Filho, Ida Vanessa Doederlein Schwartz
Published 2015-12-01

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

by Willem G. van Ginkel, Danique van Vliet, Els van der Goot, Martijn H. J. R. Faassen, Arndt Vogel, M. Rebecca Heiner-Fokkema, Eddy. A. van der Zee, Francjan J. van Spronsen
Published 2019-10-01

Biomarkers of Micronutrients in Regular Follow-Up for Tyrosinemia Type 1 and Phenylketonuria Patients

by Kimber van Vliet, Iris L. Rodenburg, Willem G. van Ginkel, Charlotte M.A. Lubout, Bruce H.R. Wolffenbuttel, Melanie M. van der Klauw, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Published 2019-08-01

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

by Vibeke Marijn Bruinenberg, Els van der Goot, Danique van Vliet, Martijn J. de Groot, Priscila N. Mazzola, Priscila N. Mazzola, Rebecca Heiner-Fokkema, Martijn van Faassen, Francjan J. van Spronsen, Eddy A Van Der Zee
Published 2016-12-01

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

by 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 2015-01-01

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

by Danique van Vliet, Els van der Goot, Wiggert G. van Ginkel, Martijn H. J. R. van Faassen, Pim de Blaauw, Ido P. Kema, Aurora Martinez, M. Rebecca Heiner-Fokkema, Eddy A. van der Zee, Francjan J. van Spronsen
Published 2019-09-01

The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients

by Willem G. van Ginkel, Hannah E. van Reemst, Nienke S. Kienstra, Anne Daly, Iris L. Rodenburg, Anita MacDonald, Johannes G.M. Burgerhof, Pim de Blaauw, Jennifer van de Krogt, Saikat Santra, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Published 2019-11-01

Orthotopic Liver Transplantation in Glycogen Storage Disease Type 1a

by Matheus V. M. B. Wilke BSc, Ruben H. de Kleine MD, J. K. G. Wietasch MD, PhD, Cynthia C. A. van Amerongen BSc, Hans Blokzijl MD, PhD, Francjan J. van Spronsen MD, PhD, Ida V. D. Schwartz MD, PhD, Terry G. J. Derks MD, PhD
Published 2016-05-01

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

by Danique van Vliet, Annemiek M.J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Kari Casas, Bozena Didycz, Maja Djordjevic, Jozef L. Hertecant, Vincenzo Leuzzi, Per Mathisen, Francesca Nardecchia, Kimberly K. Powell, Frank Rutsch, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
Published 2019-10-01

Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization

by Kevin Stroek, Anita Boelen, Marelle J. Bouva, Monique De Sain‐van der Velden, Peter C. J. I. Schielen, Rose Maase, Henk Engel, Bernadette Jakobs, Leo A. J. Kluijtmans, Margot F. Mulder, M. E. Rubio‐Gozalbo, Francjan J. vanSpronsen, Gepke Visser, Maaike C. deVries, Monique Williams, Annemieke C. Heijboer, Evelien A. Kemper, Annet M. Bosch
Published 2020-07-01

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

by Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Corinne De Laet, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Jörgen Bierau, Peter M. van Hasselt, Paul Gissen, Philippe J. Goyens, Patrick J. McKiernan, Gisela Wilcox, Andrew A. M. Morris, Elisabeth A. Jameson, Stephan C. J. Huijbregts, Francjan J. van Spronsen
Published 2019-12-01

Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation

by Karlien L. M. Coene, Corrie Timmer, Susan M. I. Goorden, Amber E. tenHoedt, Leo A. J. Kluijtmans, Mirian C. H. Janssen, Alexander J. M. Rennings, Hubertus C. M. T. Prinsen, Mirjam M. C. Wamelink, George J. G. Ruijter, Irene M. L. W. Körver‐Keularts, M. Rebecca Heiner‐Fokkema, Francjan J. vanSpronsen, Carla E. Hollak, Frédéric M. Vaz, Annet M. Bosch, Marleen C. D. G. Huigen
Published 2021-03-01