Showing 1 - 12 results of 12 for search 'Francjan J. van Spronsen', query time: 0.04s
Refine Results
-
1
-
2
-
3
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
Article -
4
Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide by Allysa M. Kuypers, Marelle J. Bouva, J. Gerard Loeber, Anita Boelen, Eugenie Dekkers, Konstantinos Petritis, C. Austin Pickens, The ISNS Representatives, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema
Published 2024-12-01
Article -
5
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead by Abigail Veldman, Mensiena B. G. Kiewiet, Margaretha Rebecca Heiner-Fokkema, Marcel R. Nelen, Richard J. Sinke, Birgit Sikkema-Raddatz, Els Voorhoeve, Dineke Westra, Martijn E. T. Dollé, Peter C. J. I. Schielen, Francjan J. van Spronsen
Published 2022-02-01
Article -
6
A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone by Allysa M. Dijkstra, Kimber Evers-van Vliet, M. Rebecca Heiner-Fokkema, Frank A. J. A. Bodewes, Dennis K. Bos, József Zsiros, Koen J. van Aerde, Klaas Koop, Francjan J. van Spronsen, Charlotte M. A. Lubout
Published 2023-12-01
Article -
7
Reply to Bouva et al. Comment on “Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. <i>Int. J... by Allysa M. Dijkstra, Kimber Evers-van Vliet, M. Rebecca Heiner-Fokkema, Frank A. J. A. Bodewes, Dennis K. Bos, József Zsiros, Koen J. van Aerde, Klaas Koop, Francjan J. van Spronsen, Charlotte M. A. Lubout
Published 2024-09-01
Article -
8
Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots by Allysa M. Dijkstra, Pim de Blaauw, Willemijn J. van Rijt, Hanneke Renting, Ronald G. H. J. Maatman, Francjan J. van Spronsen, Rose E. Maase, Peter C. J. I. Schielen, Terry G. J. Derks, M. Rebecca Heiner-Fokkema
Published 2023-06-01
Article -
9
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
Article -
10
Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients by Jorine C. van der Weerd, Annemiek M. J. van Wegberg, Theo S. Boer, Udo F. H. Engelke, Karlien L. M. Coene, Ron A. Wevers, Stephan J. L. Bakker, Pim de Blaauw, Joost Groen, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema
Published 2024-08-01
Article -
11
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening by Abigail Veldman, M. B. Gea Kiewiet, Dineke Westra, Annet M. Bosch, Marion M. G. Brands, René I. F. M. de Coo, Terry G. J. Derks, Sabine A. Fuchs, Johanna. M. P. van den Hout, Hidde H. Huidekoper, Leo A. J. Kluijtmans, Klaas Koop, Charlotte M. A. Lubout, Margaretha F. Mulder, Bianca Panis, M. Estela Rubio-Gozalbo, Monique G. de Sain-van der Velden, Jaqueline Schaefers, Andrea B. Schreuder, Gepke Visser, Ron A. Wevers, Frits A. Wijburg, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Published 2023-10-01
Article -
12
Can untreated PKU patients escape from intellectual disability? A systematic review by Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
Published 2018-08-01
Article